`variant`

Pack: myvariant · Connect: https://pipeworx.io/mcp (see Connect below for a single-pack URL)

No MCP client? Call it directly: GET https://gateway.pipeworx.io/v1/tools/variant for the schema, then POST the same URL with its arguments for the data.

Get the full merged annotation for a single human genetic variant by its HGVS id (e.g. “chr7:g.140453136A>T”). COORDINATES ARE hg19/GRCh37 BY DEFAULT — pass assembly “hg38” for GRCh38 positions, which is what gnomAD and Ensembl hand you. 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

Name	Type	Required	Description
`id`	string	yes	An HGVS variant id, e.g. “chr7:g.140453136A>T” (hg19 unless you set assembly).
`fields`	string	no	Comma-separated return fields (default: all). e.g. “clinvar,gnomad_genome.af,cadd.phred”.
`assembly`	string	no

Example call

Arguments

{
  "id": "chr7:g.140453136A>T"
}

curl

curl -X POST https://gateway.pipeworx.io/myvariant/mcp \
  -H 'Content-Type: application/json' \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"variant","arguments":{"id":"chr7:g.140453136A>T"}}}'

TypeScript (@pipeworx/sdk)

import { Pipeworx } from '@pipeworx/sdk';
const pipeworx = new Pipeworx();

const result = await pipeworx.call('variant', {
  "id": "chr7:g.140453136A>T"
});

More examples

{
  "id": "chr1:g.218631822G>A",
  "fields": "clinvar,gnomad_genome.af,cadd.phred"
}

{
  "id": "chr1:g.11796321G>A",
  "assembly": "hg38",
  "fields": "dbsnp.rsid,clinvar"
}

Connect

Add this to your MCP client config — every tool in the catalog, including this one — or use one-click install buttons:

{
  "mcpServers": {
    "pipeworx": {
      "url": "https://pipeworx.io/mcp"
    }
  }
}

Connect to just the myvariant pack

{
  "mcpServers": {
    "myvariant": {
      "url": "https://gateway.pipeworx.io/myvariant/mcp"
    }
  }
}

See Getting Started for client-specific install steps.

variant