SpliceAI Lookup through GeneFoundry
Inspect predicted splice effects through SpliceAI Lookup, with model and consequence context.
- Research area
- Variants
- Namespace
spliceai- Listed tools
- 7
- Upstream source
- SpliceAI Lookup
Research tasks
- Resolve a variant before requesting a splicing prediction
- Compare documented model outputs with transcript consequences
Start with tool discovery
The catalog lists spliceai_predict_splicing as a representative tool. After connecting your client, inspect the tools and input requirements returned by the service before submitting a query.
Identifiers to prepare
- CHROM-POS-REF-ALT with genome build
- HGVS or rsID resolved to a canonical variant
All available tools (7)
The router surfaces these tools namespaced under spliceai_*:
get_server_capabilitiesUse this first in a cold session to learn the tools, parameters, score glossary, recommended workflows, error codes, and limitations. detail='lean' returns a trimmed doc (tool list + verdicts + error codes + capabilities_version) that omits per-parameter prose already in the tool schemas. Full ~4kB, lean ~1-2kB.
Use this first in a cold session to learn the tools, parameters, score glossary, recommended workflows, error codes, and limitations. detail='lean' returns a trimmed doc (tool list + verdicts + error codes + capabilities_version) that omits per-parameter prose already in the tool schemas. Full ~4kB, lean ~1-2kB.
Input parameters
detail(string) — full (default, complete doc) or lean (tool list + hash + glossary; params by reference).
warmupPre-warm the SpliceAI + Pangolin Cloud Run containers before a burst so the first real call does not eat the 10-40s cold start. Warms the (basic gene_set, chosen mask) path per model; pass mask='both' to warm raw and masked together. Cloud Run scales per-instance, so other param combos or concurrent calls may still cold-start and warmth decays after minutes idle. Returns per-(model,mask) elapsed_ms, coverage, and stay_warm_estimate_s. Returns <1kB.
Pre-warm the SpliceAI + Pangolin Cloud Run containers before a burst so the first real call does not eat the 10-40s cold start. Warms the (basic gene_set, chosen mask) path per model; pass mask='both' to warm raw and masked together. Cloud Run scales per-instance, so other param combos or concurrent calls may still cold-start and warmth decays after minutes idle. Returns per-(model,mask) elapsed_ms, coverage, and stay_warm_estimate_s. Returns <1kB.
Input parameters
genome_build(string) — Build whose scoring containers to warm. GRCh38 default.mask(string) — Which mask path(s) to warm: raw (default), masked, or both (warms raw and masked per model in one call).
resolve_variantUse this when the caller's variant is HGVS, an rsID, or loosely formatted, and you need the canonical CHROM-POS-REF-ALT that the prediction tools require. Coordinate inputs are normalized locally; HGVS/rsIDs are resolved via Ensembl VEP, which also returns the most-severe consequence and gene symbol. Then call predict_splicing. Returns <1kB. Coordinate inputs are normalized; by default the REF base is also checked against the requested build (one Ensembl lookup) and a ref_warning + ref_validated:false is returned on mismatch (set check_ref=false to skip). HGVS/rsIDs are resolved and validated via Ensembl VEP.
Use this when the caller's variant is HGVS, an rsID, or loosely formatted, and you need the canonical CHROM-POS-REF-ALT that the prediction tools require. Coordinate inputs are normalized locally; HGVS/rsIDs are resolved via Ensembl VEP, which also returns the most-severe consequence and gene symbol. Then call predict_splicing. Returns <1kB. Coordinate inputs are normalized; by default the REF base is also checked against the requested build (one Ensembl lookup) and a ref_warning + ref_validated:false is returned on mismatch (set check_ref=false to skip). HGVS/rsIDs are resolved and validated via Ensembl VEP.
Input parameters
check_ref(boolean) — Validate a coordinate REF against the requested build (one Ensembl lookup) and return a ref_warning on mismatch (default true; set false to skip).correlation_id(any) — Optional client trace id echoed into _meta.correlation_id (on success and error) so a multi-step workflow is traceable as one unit.genome_build(string) — Reference build for resolution and scoring. GRCh38 default.include_hints(boolean) — Include _meta.next_commands (default true; set false to trim tokens).variant_id(string) [required] — A variant in any supported form: CHROM-POS-REF-ALT (chr optional; dash/colon/space delimited), transcript or genomic HGVS (e.g. NM_000123.4:c.10A>T or 17:g.43044295G>A), or an rsID (e.g. rs6025).
predict_spliceaiONE model only (SpliceAI); use predict_splicing for BOTH models with an agreement verdict. Use this for the SpliceAI delta scores (acceptor/donor gain/loss, each 0-1 with a position) of a single variant, optionally with the SpliceAI-10k consequence prediction (exon skipping / intron retention / frameshift). For a quick raw-vs-masked or single-model question; use predict_splicing to also get Pangolin. Δ>=0.5 is high-confidence. Returns ~1-4kB (full/all larger). Note: cold calls take 10-30s. Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
ONE model only (SpliceAI); use predict_splicing for BOTH models with an agreement verdict. Use this for the SpliceAI delta scores (acceptor/donor gain/loss, each 0-1 with a position) of a single variant, optionally with the SpliceAI-10k consequence prediction (exon skipping / intron retention / frameshift). For a quick raw-vs-masked or single-model question; use predict_splicing to also get Pangolin. Δ>=0.5 is high-confidence. Returns ~1-4kB (full/all larger). Note: cold calls take 10-30s. Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
Input parameters
correlation_id(any) — Optional client trace id echoed into _meta.correlation_id (on success and error) so a multi-step workflow is traceable as one unit.cross_build_check(boolean) — On not_found, probe the other build to detect a build_mismatch.gene_set(string) — basic (default) or comprehensive GENCODE (much slower; may 503).genome_build(string) — Reference build. GRCh38 default.include_consequence(boolean) — Include the SAI-10k aberration prediction (exon skipping, etc.).include_hints(boolean) — Include _meta.next_commands + see_also chaining hints (default true; set false to trim tokens once you know the workflow; also drops the static capabilities_version from _meta).include_see_also(boolean) — Include _meta.see_also cross-server hints (default true; independent of include_hints -- set false to keep next_commands but drop the 4 cross-server entries).mask(string) — raw (default; alt-splicing) or masked (variant interpretation).max_distance(integer) — nt window scanned (default 500; larger = slower).response_mode(string) — minimal, compact (default), standard, or full (adds REF/ALT + exon model).transcripts(string) — mane (default, MANE Select) or all overlapping transcripts.variant_id(string) [required] — CHROM-POS-REF-ALT, HGVS, or rsID (HGVS/rsIDs are auto-resolved).
predict_pangolinONE model only (Pangolin); use predict_splicing for BOTH models with an agreement verdict. Use this for the Pangolin splice gain/loss scores of a single variant. Pangolin is an independent splice model; agreement with SpliceAI strengthens a prediction, disagreement warrants caution. Use predict_splicing to get both models in one call. Returns ~1-3kB. Note: cold calls take 10-30s. Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
ONE model only (Pangolin); use predict_splicing for BOTH models with an agreement verdict. Use this for the Pangolin splice gain/loss scores of a single variant. Pangolin is an independent splice model; agreement with SpliceAI strengthens a prediction, disagreement warrants caution. Use predict_splicing to get both models in one call. Returns ~1-3kB. Note: cold calls take 10-30s. Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
Input parameters
correlation_id(any) — Optional client trace id echoed into _meta.correlation_id (on success and error) so a multi-step workflow is traceable as one unit.cross_build_check(boolean) — On not_found, probe the other build to detect a build_mismatch.gene_set(string) — basic (default) or comprehensive GENCODE (much slower).genome_build(string) — Reference build. GRCh38 default.include_hints(boolean) — Include _meta.next_commands + see_also chaining hints (default true; set false to trim tokens once you know the workflow; also drops the static capabilities_version from _meta).include_see_also(boolean) — Include _meta.see_also cross-server hints (default true; independent of include_hints -- set false to keep next_commands but drop the 4 cross-server entries).mask(string) — raw (default) or masked.max_distance(integer) — nt window scanned (default 500; larger = slower).response_mode(string) — minimal, compact (default), standard, or full (adds REF/ALT + all-non-zero).transcripts(string) — mane (default) or all overlapping transcripts.variant_id(string) [required] — CHROM-POS-REF-ALT, HGVS, or rsID (HGVS/rsIDs are auto-resolved).
predict_splicingBOTH models (SpliceAI + Pangolin) in one call -- the default "what does this variant do to splicing?" answer. Use this as the default one-call answer for "what does this variant do to splicing?". It resolves HGVS/rsIDs, runs SpliceAI and Pangolin (two independent models), includes the SpliceAI-10k consequence prediction, and reports whether the models agree. Read the top-level headline first. For a single model use predict_spliceai / predict_pangolin. Returns ~3-6kB. Note: cold calls take 15-40s (two model calls). Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
BOTH models (SpliceAI + Pangolin) in one call -- the default "what does this variant do to splicing?" answer. Use this as the default one-call answer for "what does this variant do to splicing?". It resolves HGVS/rsIDs, runs SpliceAI and Pangolin (two independent models), includes the SpliceAI-10k consequence prediction, and reports whether the models agree. Read the top-level headline first. For a single model use predict_spliceai / predict_pangolin. Returns ~3-6kB. Note: cold calls take 15-40s (two model calls). Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
Input parameters
correlation_id(any) — Optional client trace id echoed into _meta.correlation_id (on success and error) so a multi-step workflow is traceable as one unit.cross_build_check(boolean) — On not_found, probe the other build to detect a build_mismatch.gene_set(string) — basic (default) or comprehensive GENCODE (much slower; may 503).genome_build(string) — Reference build. GRCh38 default.include_hints(boolean) — Include _meta.next_commands + see_also chaining hints (default true; set false to trim tokens once you know the workflow; also drops the static capabilities_version from _meta).include_see_also(boolean) — Include _meta.see_also cross-server hints (default true; independent of include_hints -- set false to keep next_commands but drop the 4 cross-server entries).mask(string) — raw (default; alt-splicing) or masked (variant interpretation).max_distance(integer) — nt window scanned (default 500; larger = slower).response_mode(string) — minimal, compact (default), standard, or full (adds REF/ALT + exon model).transcripts(string) — mane (default, MANE Select) or all overlapping transcripts.variant_id(string) [required] — CHROM-POS-REF-ALT, HGVS, or rsID (HGVS/rsIDs are auto-resolved).
predict_splicing_batchScore a list of variants in ONE call. The server fans out under its concurrency cap and returns a single envelope with per-variant results (+ per-item errors that do not fail the batch) and a summary. Use this for gene panels instead of N predict_splicing calls. Accepts 1-25 variants (more than max_items=25 returns invalid_input, not a truncated result); each item returns about one compact predict_splicing result, so a full batch is ~25x a single compact response, and _meta echoes items_submitted and max_items. Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
Score a list of variants in ONE call. The server fans out under its concurrency cap and returns a single envelope with per-variant results (+ per-item errors that do not fail the batch) and a summary. Use this for gene panels instead of N predict_splicing calls. Accepts 1-25 variants (more than max_items=25 returns invalid_input, not a truncated result); each item returns about one compact predict_splicing result, so a full batch is ~25x a single compact response, and _meta echoes items_submitted and max_items. Supports MCP background tasks (execution.taskSupport=optional): augment the call with a task to fire-and-continue instead of blocking 15-40s.
Input parameters
correlation_id(any) — Optional client trace id echoed into _meta.correlation_id (on success and error) so a multi-step workflow is traceable as one unit.cross_build_check(boolean) — On not_found, probe the other build to detect a build mismatch.gene_set(string) — basic (default) or comprehensive GENCODE (much slower; may 503).genome_build(string) — Reference build applied to every variant. GRCh38 default.mask(string) — raw (default; alt-splicing) or masked (variant interpretation).max_distance(integer) — nt window scanned per variant (default 500).response_mode(string) — Per-item verbosity: minimal, compact (default), standard, or full.transcripts(string) — mane (default, MANE Select) or all overlapping transcripts.variant_ids(array) [required] — A LIST of 1-25 variants, each CHROM-POS-REF-ALT / HGVS / rsID (HGVS/rsIDs are auto-resolved). Pass an array even for a single variant.
Database & release provenance
- Data mode
none- Attestation
- unhosted
- Release version
v4.0.5
ghcr.io/berntpopp/spliceailookup-link@sha256:3dc6b5a300fd74b212fd372ab780507c441ba685fe17edde365f0bca0d3bce94Review the response
Keep the source record link and submitted identifiers with your notes. Record the dataset version and retrieval date when available. This page does not contain a captured SpliceAI Lookup response.