Dbsnp Tools

Configuration File: dbsnp_tools.json Tool Type: Local Tools Count: 3

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

Available Tools

dbsnp_get_frequencies (Type: dbSNPGetFrequencies)

Get allele frequencies for a variant from dbSNP. Returns population-specific allele frequency data.

dbsnp_get_frequencies tool specification

Tool Information:

  • Name: dbsnp_get_frequencies

  • Type: dbSNPGetFrequencies

  • Description: Get allele frequencies for a variant from dbSNP. Returns population-specific allele frequency data.

Parameters:

  • rsid (string) (required) dbSNP rsID (e.g., ‘rs12345’, ‘12345’)

Example Usage:

query = {
    "name": "dbsnp_get_frequencies",
    "arguments": {
        "rsid": "example_value"
    }
}
result = tu.run(query)

dbsnp_get_variant_by_rsid (Type: dbSNPGetVariantByRsID)

Get variant information from dbSNP by rsID. Returns genomic coordinates, alleles, and basic varia…

dbsnp_get_variant_by_rsid tool specification

Tool Information:

  • Name: dbsnp_get_variant_by_rsid

  • Type: dbSNPGetVariantByRsID

  • Description: Get variant information from dbSNP by rsID. Returns genomic coordinates, alleles, and basic variant information.

Parameters:

  • rsid (string) (required) dbSNP rsID (e.g., ‘rs12345’, ‘12345’)

Example Usage:

query = {
    "name": "dbsnp_get_variant_by_rsid",
    "arguments": {
        "rsid": "example_value"
    }
}
result = tu.run(query)

dbsnp_search_by_gene (Type: dbSNPSearchByGene)

Search for variants in a specific gene. Returns variants associated with the gene symbol.

dbsnp_search_by_gene tool specification

Tool Information:

  • Name: dbsnp_search_by_gene

  • Type: dbSNPSearchByGene

  • Description: Search for variants in a specific gene. Returns variants associated with the gene symbol.

Parameters:

  • gene_symbol (string) (required) Gene symbol (e.g., ‘BRCA1’, ‘TP53’, ‘APOE’)

  • limit (integer) (optional) Maximum number of results to return

Example Usage:

query = {
    "name": "dbsnp_search_by_gene",
    "arguments": {
        "gene_symbol": "example_value"
    }
}
result = tu.run(query)