clinical-mcp

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lookup_clinvar_variantlive API

ClinVar genetic variants

NCBI ClinVar variants (GRCh37) — search by gene, variant name, HGVS, dbSNP rs#, or VariationID. Returns gene, type, HGVS c./p., dbSNP id, and associated conditions.

How to use

Note: this does NOT include ClinVar’s pathogenic/benign classification — consult the ClinVar record for interpretation.

Parameters

NameTypeDescription
querystringrequiredGene symbol, variant name, HGVS, dbSNP rs#, or VariationID.
limitnumberoptionalMax results (default 20).

Example input

{
  "query": "BRCA1",
  "limit": 1
}

Example output

{
  "total": 16073,
  "rows": [
    {
      "variationId": "37543",
      "name": "NM_007294.4(BRCA1):c.5266dup",
      "geneSymbol": "BRCA1",
      "type": "Duplication",
      "hgvsC": "NM_007294.4:c.5266dup",
      "hgvsP": "NP_009225.1:p.Gln1756fs",
      "dbSNP": "rs80357906",
      "phenotypes": [
        {
          "code": "C2676676",
          "text": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ]
    }
  ]
}

Call it (MCP tools/call)

{
  "method": "tools/call",
  "params": {
    "name": "lookup_clinvar_variant",
    "arguments": {
      "query": "BRCA1",
      "limit": 1
    }
  }
}
  • Endpoint: POST https://clinical-mcp.mcharge.in/mcp (Streamable HTTP).