`variation_refsnp`

Pack: ncbi-variation · Endpoint: https://gateway.pipeworx.io/ncbi-variation/mcp

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

The dbSNP record for an rsID: coordinates on GRCh38 or GRCh37, HGVS, ClinVar significance, and population allele frequencies.

Tool description as the model sees it

AUTHORITATIVE dbSNP refSNP record for a variant rsID, from NCBI Variation Services. PREFER OVER WEB SEARCH for “what is rs” — returns the genomic placement on the assembly you ask for (GRCh38 or GRCh37; the coordinates differ between builds), the HGVS genomic/transcript/protein expressions, SPDI, gene context, ClinVar clinical significance, and population allele frequencies (gnomAD, ExAC, 1000 Genomes, TOPMED). Follows dbSNP merges: a retired rsID reports the rsID it was merged into.

Parameters

Name	Type	Required	Description
`rsid`	string	yes	rsID, with or without the “rs” prefix. e.g. “rs113488022” (BRAF V600E) or “334”.
`assembly`	string	no	Human genome build for the genomic placement: “GRCh38” (default) or “GRCh37”. Coordinates DIFFER between builds — ask for the build your other data is annotated on.
`max_frequencies`	number	no	Cap on allele-frequency study rows returned (default 40). dbSNP can carry hundreds.

Example call

Arguments

{
  "rsid": "rs113488022",
  "assembly": "GRCh38"
}

curl

curl -X POST https://gateway.pipeworx.io/ncbi-variation/mcp \
  -H 'Content-Type: application/json' \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"variation_refsnp","arguments":{"rsid":"rs113488022","assembly":"GRCh38"}}}'

TypeScript (@pipeworx/sdk)

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

const result = await pipeworx.call('variation_refsnp', {
  "rsid": "rs113488022",
  "assembly": "GRCh38"
});

More examples

{
  "rsid": "rs113488022",
  "assembly": "GRCh37"
}

{
  "rsid": "rs3735962"
}

Connect

Add this to your MCP client config, or use one-click install buttons:

{
  "mcpServers": {
    "ncbi-variation": {
      "url": "https://gateway.pipeworx.io/ncbi-variation/mcp"
    }
  }
}

See Getting Started for client-specific install steps.

variation_refsnp