Research area
Variants
Namespace
autopvs1
Listed tools
7
Upstream source
AutoPVS1

Research tasks

  • Review the documented PVS1 flowchart for a resolved variant
  • Keep variant coordinates and genome build with the evidence

Start with tool discovery

The catalog lists autopvs1_get_variant_pvs1_data 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 for SNVs/indels
  • CHROM-START-END-DEL or DUP for CNVs
  • Explicit hg19 or hg38 genome build

All available tools (7)

The router surfaces these tools namespaced under autopvs1_*:

get_server_capabilitiesUse this to discover AutoPVS1-Link MCP tools, inputs, limitations, and workflow.

Use this to discover AutoPVS1-Link MCP tools, inputs, limitations, and workflow.

get_server_healthReturn local MCP server health.

Return local MCP server health. Default behaviour: no upstream call, sub-millisecond. Pass ``check_upstream=true`` for an opt-in HEAD probe — useful when an agent wants to confirm AutoPVS1 is reachable before scheduling a cold scoring call.

Input parameters

  • check_upstream(boolean) — When true, issue one short HEAD probe against the AutoPVS1 base URL and report reachability in data.upstream_reachable. Default false keeps the cheap-tool contract (no upstream cost, sub-ms).
get_variant_pvs1_dataScore one SNV/indel variant with the AutoPVS1 PVS1 rules.

Score one SNV/indel variant with the AutoPVS1 PVS1 rules. Auto-resolves non-canonical inputs (rsID, HGVS c./p./g.) into canonical SPDI via one Ensembl Variant Recoder REST call before scoring (build-scoped — GRCh37 host for hg19, GRCh38 host for hg38). Emits an ``auto_resolved`` warning carrying the input, the resolved id, and the resolver source. Ambiguous resolutions return ``error_code='ambiguous_query'`` (subcode ``requires_disambiguation``) with allele-keyed candidates instead of silently picking one (mitigates multi-allelic mis-scoring). First-turn LLM callers get the verdict under ~1.5KB by default (``response_mode='summary'``). Widen to ``response_mode='standard'`` for the full decision tree, or ``'full'`` for the audit-trail ``*_raw`` upstream fields. AutoPVS1 outputs are research-use only, not clinical decision support.

Input parameters

  • genome_build(string) [required] — Genome build: hg19 or hg38.
  • include_unmet(boolean) — Include disease-mechanism rows with adjusted_strength=Unmet.
  • meta_mode(string) — Metadata detail level: compact (default -- doi+pmid), full (adds verbatim citation text+url), or minimal (no citation).
  • response_mode(string) — Response detail level. Default 'summary' returns the verdict (preliminary path + final strength) under ~1.5KB so first-turn LLM callers stay in budget. Widen to 'standard' for the full decision tree with hoisted note_text and disease_mechanisms when the user asks for the tree; use 'full' only for auditors who need the ``*_raw`` upstream fields; 'ids_only' is the batch-screen lookup tier.
  • variant_id(string) [required] — Variant identifier. Canonical SPDI (CHROM-POS-REF-ALT, e.g. X-82763936-A-T) scores in one upstream call. rsID (rs80357906) or HGVS (NM_007294.4:c.5266dup, NP_000050.2:p.Glu1756fs, NC_000017.11:g.43091983C>A) auto-resolves via Ensembl Variant Recoder REST (build-scoped) then scores. Multiple resolver candidates return error_code='ambiguous_query' (error_subcode 'requires_disambiguation') with allele-keyed rows in details.candidates — caller picks one. Recoder offline returns error_code='upstream_unavailable' (error_subcode 'external_resolver_unavailable', retryable).
get_cnv_pvs1_dataScore one copy-number variant with the AutoPVS1 PVS1 rules.

Score one copy-number variant with the AutoPVS1 PVS1 rules. First-turn LLM callers get the verdict under ~1.5KB by default (``response_mode='summary'``). Widen to ``response_mode='standard'`` for the full decision tree. AutoPVS1 outputs are research-use only, not clinical decision support.

Input parameters

  • cnv_id(string) [required] — AutoPVS1 CNV ID in {chrom}-{start}-{end}-{TYPE} form, for example 17-15000000-20000000-DEL. TYPE is DEL or DUP.
  • genome_build(string) [required] — Genome build: hg19 or hg38.
  • include_unmet(boolean) — Include disease-mechanism rows with adjusted_strength=Unmet.
  • meta_mode(string) — Metadata detail level: compact (default -- doi+pmid), full (adds verbatim citation text+url), or minimal (no citation).
  • response_mode(string) — Response detail level. Default 'summary' returns the verdict (preliminary path + final strength) under ~1.5KB. Widen to 'standard' for the full decision tree with hoisted note_text and disease_mechanisms when the user asks for the tree; use 'full' only for auditors who need the ``*_raw`` upstream fields; 'ids_only' is the batch-screen lookup tier.
get_variants_pvs1_data_bulkScore 1-10 SNV/indel variants in one call.

Score 1-10 SNV/indel variants in one call. Prefer this over ``get_variant_pvs1_data`` when you have 2+ variant IDs of the same kind. For LLM batch screens, default to ``response_mode='summary'`` so 10 verdicts share one turn budget; widen per-item only when reasoning needs the full decision tree. Items run sequentially server-side and respect the upstream rate limit (default ~1 req/s) plus the existing cache, so a fully uncached 10-item batch can take ~10s wall time and a fully cached one returns in milliseconds. Auto-resolution applies per item: non-canonical inputs (rsID, HGVS c./p./g.) round-trip through Ensembl Variant Recoder before scoring, mirroring ``get_variant_pvs1_data``. Multi-candidate resolutions return per-item ``requires_disambiguation`` with allele-keyed candidates so the caller picks one and re-calls that single item; a resolver outage returns the retryable ``external_resolver_unavailable`` code. Per-item envelope: each row in the top-level ``results`` array has ``{ok, input, data, error, meta}`` where ``meta.cache_status`` and ``meta.elapsed_ms`` echo that one upstream call's outcome (absent when the item short-circuited before upstream). This per-item shape predates and is scoped separately from the Response-Envelope Standard v1 outer frame. Output items preserve input order. ``response_mode`` and ``include_unmet`` apply per item; the outer ``meta_mode`` controls the envelope. Per-item failures do not stop the batch unless ``continue_on_error=false``. Bulk dispatch errors (malformed ``items``) use ``error_code='invalid_input'`` (subcode ``invalid_bulk_input``). Aggregate cache observability: top-level ``_meta.cache_status`` echoes the unanimous status when every item agrees; on a mixed batch it is ``"mixed"`` and ``_meta.cached_count`` / ``_meta.uncached_count`` split items by warm (``hit``+``coalesced``) vs cold (``miss``+``bypass``). ``_meta.elapsed_ms`` is the SUM of per-item upstream wall-clocks (the honest total for a sequential bulk). Warning aggregation: per-item warnings are NOT echoed; they are collapsed into ``_meta.warnings`` at the top level. A warning code is aggregated only when more than one distinct item emitted it; single-item codes appear without ``count`` or ``affected_indices``. Aggregated codes carry ``count`` (distinct items) and the sorted ``affected_indices`` list. Order is first-seen-code-first.

Input parameters

  • continue_on_error(boolean) — If true (default), per-item failures do not stop the batch.
  • include_unmet(boolean) — Include disease-mechanism rows with adjusted_strength=Unmet.
  • items(array) [required] — List of 1 to 10 variant requests. Each item: {genome_build: hg19|hg38, variant_id: ...}.
  • meta_mode(string) — Metadata detail level: compact (default -- doi+pmid), full (adds verbatim citation text+url), or minimal (no citation).
  • response_mode(string) — Response detail level applied to each item. Default 'summary' keeps the per-item payload small enough that 10 items still fit one turn budget. Widen to 'standard' only when an item needs the full decision tree.
get_cnvs_pvs1_data_bulkScore 1-10 CNVs in one call.

Score 1-10 CNVs in one call. Prefer this over ``get_cnv_pvs1_data`` when you have 2+ CNV IDs. For LLM batch screens, default to ``response_mode='summary'`` so 10 verdicts share one turn budget. Same semantics as ``get_variants_pvs1_data_bulk``: sequential server-side, respects upstream rate limit + cache; per-item ``{ok, input, data, error, meta}`` with ``meta.cache_status`` + ``meta.elapsed_ms`` echoing each item's upstream outcome; output items preserve input order; ``response_mode`` and ``include_unmet`` apply per item; the outer ``meta_mode`` controls the envelope. Per-item failures do not stop the batch unless ``continue_on_error=false``. Aggregate cache observability: top-level ``_meta.cache_status`` is ``"mixed"`` when items had varied outcomes (with ``cached_count`` / ``uncached_count``) or echoes the unanimous status. ``_meta.elapsed_ms`` is the SUM of per-item upstream wall-clocks. Warning aggregation: per-item warnings collapse into ``_meta.warnings``; codes emitted by more than one distinct item carry ``count`` and ``affected_indices``; single-item codes do not. Order is first-seen-code-first.

Input parameters

  • continue_on_error(boolean) — If true (default), per-item failures do not stop the batch.
  • include_unmet(boolean) — Include disease-mechanism rows with adjusted_strength=Unmet.
  • items(array) [required] — List of 1 to 10 CNV requests. Each item: {genome_build: hg19|hg38, cnv_id: chrom-start-end-DEL|DUP}.
  • meta_mode(string) — Metadata detail level: compact (default -- doi+pmid), full (adds verbatim citation text+url), or minimal (no citation).
  • response_mode(string) — Response detail level applied to each item. Default 'summary' keeps the per-item payload small enough that 10 items still fit one turn budget. Widen to 'standard' only when an item needs the full decision tree.
search_variantsSearch AutoPVS1 by gene symbol or variant text.

Search AutoPVS1 by gene symbol or variant text. Use ``response_mode='ids_only'`` (lowest-bandwidth lookup) to resolve a query to an AutoPVS1 ``variant_id`` you can hand to ``get_variant_pvs1_data``. ``next_cursor`` is base64url JSON today (decodable) but treat it as an echo-back token; it MAY become opaque later. AutoPVS1 outputs are research-use only, not clinical decision support.

Input parameters

  • cursor(any) — Pagination token from a prior response's next_cursor. Transparent base64url JSON today (you MAY decode it), but prefer echoing it back unchanged; it MAY become opaque later.
  • genome_build(any) — Canonical genome build for MCP search: hg19 or hg38.
  • genome_version(any) — Deprecated alias for genome_build; accepted for one release.
  • limit(integer) — Maximum results to return; default 10. Values below 1 are treated as 1 and values above 50 are treated as 50.
  • meta_mode(string) — Metadata detail level: compact (default -- doi+pmid), full (adds verbatim citation text+url), or minimal (no citation).
  • query(string) [required] — Gene symbol, HGVS text, or partial variant string.
  • response_mode(string) — Response detail level. Default 'ids_only' emits the AutoPVS1 variant_id and url per row — the leanest shape for hand-off to get_variant_pvs1_data. 'summary' keeps variant_id + url per row plus suggestions (lean navigable page); 'standard' returns rich rows with gene + variant_type; 'full' is identical to 'standard' for search.

Database & release provenance

Data mode
none
Attestation
unhosted
Release version
v4.1.6
ghcr.io/berntpopp/autopvs1-link@sha256:ef1f997313f4b45f2f8bebf20fa87e956fc6ab6d3ae57dcd3e761d8fd7d592f0

Review 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 AutoPVS1 response.