variant_getter

Retrieve detailed genetic variant information, including gene location, population frequencies, clinical significance, and functional predictions, using HGVS, rsID, or MyVariant ID formats.

Instructions

Fetch comprehensive details for a specific genetic variant.

Retrieves all available information for a variant including:
- Gene location and consequences
- Population frequencies across databases
- Clinical significance from ClinVar
- Functional predictions
- External annotations (TCGA cancer data, conservation scores)

Accepts various ID formats:
- HGVS: NM_004333.4:c.1799T>A
- rsID: rs113488022
- MyVariant ID: chr7:g.140753336A>T

Input Schema

Name	Required	Description	Default
`include_external`	No	Include external annotations (TCGA, 1000 Genomes, functional predictions)
`variant_id`	Yes	Variant ID (HGVS, rsID, or MyVariant ID like 'chr7:g.140753336A>T')

Input Schema (JSON Schema)

{
  "properties": {
    "include_external": {
      "default": true,
      "description": "Include external annotations (TCGA, 1000 Genomes, functional predictions)",
      "title": "Include External",
      "type": "boolean"
    },
    "variant_id": {
      "description": "Variant ID (HGVS, rsID, or MyVariant ID like 'chr7:g.140753336A>T')",
      "title": "Variant Id",
      "type": "string"
    }
  },
  "required": [
    "variant_id"
  ],
  "title": "variant_getterArguments",
  "type": "object"
}

BioMCP

variant_getter

Instructions

Input Schema

Input Schema (JSON Schema)

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MCP directory API