variant_searcher
Retrieve detailed genetic variant records, including population frequencies, clinical significance, and functional predictions, from MyVariant.info. Search by gene, HGVS notation, rsID, or genomic region, and filter by clinical or functional criteria to refine results.
Instructions
Search MyVariant.info for genetic variant DATABASE RECORDS.
⚠️ PREREQUISITE: Use the 'think' tool FIRST to plan your research strategy!
Important: This searches for variant DATABASE RECORDS (frequency, significance, etc.),
NOT articles about variants. For articles about variants, use article_searcher.
Searches the comprehensive variant database including:
- Population frequencies (gnomAD, 1000 Genomes, etc.)
- Clinical significance (ClinVar)
- Functional predictions (SIFT, PolyPhen, CADD)
- Gene and protein consequences
Search by various identifiers or filter by clinical/functional criteria.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| cadd_score_min | No | Minimum CADD score for pathogenicity | |
| consequence | No | Variant consequence (e.g., 'missense_variant') | |
| frequency_max | No | Maximum allele frequency | |
| frequency_min | No | Minimum allele frequency | |
| gene | No | Gene symbol (e.g., 'BRAF', 'TP53') | |
| hgvs | No | HGVS notation (genomic, coding, or protein) | |
| hgvsc | No | Coding sequence change (e.g., 'c.1799T>A') | |
| hgvsp | No | Protein change in HGVS format (e.g., 'p.V600E') | |
| include_cbioportal | No | Include cBioPortal cancer genomics summary when searching by gene | |
| page | No | Page number (1-based) | |
| page_size | No | Results per page | |
| polyphen_prediction | No | PolyPhen-2 functional prediction | |
| region | No | Genomic region (e.g., 'chr7:140753336-140753337') | |
| rsid | No | dbSNP rsID (e.g., 'rs113488022') | |
| sift_prediction | No | SIFT functional prediction | |
| significance | No | Clinical significance filter |
Input Schema (JSON Schema)
{
"properties": {
"cadd_score_min": {
"anyOf": [
{
"type": "number"
},
{
"type": "null"
}
],
"default": null,
"description": "Minimum CADD score for pathogenicity",
"title": "Cadd Score Min"
},
"consequence": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Variant consequence (e.g., 'missense_variant')",
"title": "Consequence"
},
"frequency_max": {
"anyOf": [
{
"maximum": 1,
"minimum": 0,
"type": "number"
},
{
"type": "null"
}
],
"default": null,
"description": "Maximum allele frequency",
"title": "Frequency Max"
},
"frequency_min": {
"anyOf": [
{
"maximum": 1,
"minimum": 0,
"type": "number"
},
{
"type": "null"
}
],
"default": null,
"description": "Minimum allele frequency",
"title": "Frequency Min"
},
"gene": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Gene symbol (e.g., 'BRAF', 'TP53')",
"title": "Gene"
},
"hgvs": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "HGVS notation (genomic, coding, or protein)",
"title": "Hgvs"
},
"hgvsc": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Coding sequence change (e.g., 'c.1799T>A')",
"title": "Hgvsc"
},
"hgvsp": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Protein change in HGVS format (e.g., 'p.V600E')",
"title": "Hgvsp"
},
"include_cbioportal": {
"default": true,
"description": "Include cBioPortal cancer genomics summary when searching by gene",
"title": "Include Cbioportal",
"type": "boolean"
},
"page": {
"default": 1,
"description": "Page number (1-based)",
"minimum": 1,
"title": "Page",
"type": "integer"
},
"page_size": {
"default": 10,
"description": "Results per page",
"maximum": 100,
"minimum": 1,
"title": "Page Size",
"type": "integer"
},
"polyphen_prediction": {
"anyOf": [
{
"enum": [
"probably_damaging",
"possibly_damaging",
"benign"
],
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "PolyPhen-2 functional prediction",
"title": "Polyphen Prediction"
},
"region": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Genomic region (e.g., 'chr7:140753336-140753337')",
"title": "Region"
},
"rsid": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "dbSNP rsID (e.g., 'rs113488022')",
"title": "Rsid"
},
"sift_prediction": {
"anyOf": [
{
"enum": [
"deleterious",
"tolerated"
],
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "SIFT functional prediction",
"title": "Sift Prediction"
},
"significance": {
"anyOf": [
{
"enum": [
"pathogenic",
"likely_pathogenic",
"uncertain_significance",
"likely_benign",
"benign",
"conflicting"
],
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Clinical significance filter",
"title": "Significance"
}
},
"title": "variant_searcherArguments",
"type": "object"
}