variant

Active

declared in 0.1.0

Get the full merged annotation for a single human genetic variant by its HGVS id (e.g. "chr7:g.140453136A>T"). Returns annotations aggregated from dbSNP, ClinVar (pathogenicity / clinical significance), CADD and dbNSFP (deleteriousness/conservation scores), and gnomAD (population allele frequencies). Use to look up a known variant and read its pathogenicity and population frequency.

Parameters schema

{
  "type": "object",
  "required": [
    "id"
  ],
  "properties": {
    "id": {
      "type": "string",
      "description": "An HGVS variant id, e.g. \"chr7:g.140453136A>T\"."
    },
    "fields": {
      "type": "string",
      "description": "Comma-separated return fields (default: all). e.g. \"clinvar,gnomad_genome.af,cadd.phred\"."
    }
  }
}

What this tool wraps· 0 endpoints

min confidence0.70 0.50

No endpoints wrapped at confidence ≥ 0.50.

Parent server

mcp-myvariant

https://github.com/pipeworx-io/mcp-myvariant

2/7 registries

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