Compound Variant Tools

Configuration File: compound_variant_tools.json Tool Type: Local Tools Count: 1

This page contains all tools defined in the compound_variant_tools.json configuration file.

Available Tools

annotate_variant_multi_source (Type: CompoundVariantAnnotationTool)

Annotate a genetic variant from ClinVar, gnomAD, CIViC, and UniProt in a single call. Returns pat…

annotate_variant_multi_source tool specification

Tool Information:

  • Name: annotate_variant_multi_source

  • Type: CompoundVariantAnnotationTool

  • Description: Annotate a genetic variant from ClinVar, gnomAD, CIViC, and UniProt in a single call. Returns pathogenicity classification, population constraints, clinical evidence, and protein function. Use when you need comprehensive variant interpretation from multiple databases at once.

Parameters:

  • variant ([‘string’, ‘null’]) (optional) Variant name (e.g., ‘BRAF V600E’, ‘TP53 R175H’). Gene symbol + amino acid change.

  • gene ([‘string’, ‘null’]) (optional) Gene symbol (e.g., ‘BRCA1’). Used for gnomAD/CIViC lookup.

  • rsid ([‘string’, ‘null’]) (optional) dbSNP rsID (e.g., ‘rs113488022’).

Example Usage:

query = {
    "name": "annotate_variant_multi_source",
    "arguments": {
    }
}
result = tu.run(query)