search
Query genes, variants, or regions in the gnomAD database to retrieve genetic variant data, population frequencies, and gene constraint scores. Supports GRCh37 and GRCh38 reference genomes for in-depth genomic analysis.
Instructions
Search for genes, variants, or regions in gnomAD
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| dataset | No | Dataset ID (gnomad_r4, gnomad_r3, gnomad_r2_1, etc.) | gnomad_r4 |
| query | Yes | Search query (gene symbol, gene ID, variant ID, rsID, etc.) | |
| reference_genome | No | Reference genome (GRCh37 or GRCh38) | GRCh38 |
Input Schema (JSON Schema)
{
"properties": {
"dataset": {
"default": "gnomad_r4",
"description": "Dataset ID (gnomad_r4, gnomad_r3, gnomad_r2_1, etc.)",
"type": "string"
},
"query": {
"description": "Search query (gene symbol, gene ID, variant ID, rsID, etc.)",
"type": "string"
},
"reference_genome": {
"default": "GRCh38",
"description": "Reference genome (GRCh37 or GRCh38)",
"type": "string"
}
},
"required": [
"query"
],
"type": "object"
}