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ClinGen Evidence Repository

ClinGen ERepo provides versioned Variant Curation Expert Panel assertions keyed by ClinGen Allele identifier (CAid).

BioMCP preserves source facts rather than applying ACMG/AMP rules or treating defaults and comments as applied criterion strength. ClinGen ERepo contains germline variant interpretations. For somatic tumor questions, use CIViC: get gene civic or get variant civic.

What BioMCP exposes

  • variant erepo <CAid> returns zero or more assertion summaries with independent met and unmet source criterion lists.
  • variant erepo <CAid> --detail retrieves one explicitly selected versioned SEPIO document, including comments, curator facts, and narrowly located PMIDs.
  • Typed MCP variant_erepo accepts one caid or a bounded caids batch.
  • variant erepo --gene <symbol> returns bounded compact pages with truthful continuation metadata and no inferred total.
  • Typed MCP variant_erepo also accepts gene, limit, and offset, mutually exclusive with CAID and detail inputs.

Example commands

biomcp --json variant erepo CA015543

Retrieve source-faithful assertion summaries for one CAid.

biomcp --json variant erepo CA015543 --detail

Retrieve one selected versioned SEPIO detail document.

biomcp --json variant erepo --input caids.json

Batch input accepts 1–50 CAids and remains summary-only.

biomcp --json variant erepo --gene PTEN --limit 25 --offset 0

Gene search returns at most 100 rows per page, limits string previews to 256 UTF-8 bytes, and never cuts an HGVS expression to fit.

When a summary has multiple assertions, detail requires --assertion <UUID>; --version must be an exact source document version.

API access

No BioMCP API key required.

Official source