Marrvel Tools#

Configuration File: marrvel_tools.json Tool Type: Local Tools Count: 2

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

Available Tools#

MARRVEL_get_gene (Type: MARRVELGeneTool)#

Get aggregated identity and annotation for a human gene by symbol from MARRVEL: cross-references …

MARRVEL_get_gene tool specification

Tool Information:

  • Name: MARRVEL_get_gene

  • Type: MARRVELGeneTool

  • Description: Get aggregated identity and annotation for a human gene by symbol from MARRVEL: cross-references (HGNC, Ensembl, Entrez, UniProt), chromosome/cytogenetic location, gene type, aliases, previous symbols, and the Entrez gene summary. Use as a one-call gene-identity resolver in rare-disease / Mendelian variant triage workflows. Does NOT include an OMIM ID – MARRVEL’s own gene-lookup endpoint returns an unreliable placeholder value for it (confirmed live), use MARRVEL_get_omim_phenotypes for OMIM associations instead. No API key required.

Parameters:

  • symbol ([‘string’, ‘null’]) (optional) HGNC gene symbol, e.g. ‘CFTR’, ‘BRCA1’.

  • gene_symbol ([‘string’, ‘null’]) (optional) Alias for symbol.

  • gene ([‘string’, ‘null’]) (optional) Alias for symbol.

Example Usage:

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

MARRVEL_get_omim_phenotypes (Type: MARRVELOmimTool)#

Get OMIM phenotype/disease associations for a human gene by symbol via MARRVEL: each association’…

MARRVEL_get_omim_phenotypes tool specification

Tool Information:

  • Name: MARRVEL_get_omim_phenotypes

  • Type: MARRVELOmimTool

  • Description: Get OMIM phenotype/disease associations for a human gene by symbol via MARRVEL: each association’s phenotype name, gene and phenotype MIM numbers, mode of inheritance, and phenotypic series. Use to enumerate the Mendelian diseases linked to a gene and their inheritance patterns. No API key required.

Parameters:

  • symbol ([‘string’, ‘null’]) (optional) HGNC gene symbol, e.g. ‘CFTR’, ‘BRCA1’.

  • gene_symbol ([‘string’, ‘null’]) (optional) Alias for symbol.

  • gene ([‘string’, ‘null’]) (optional) Alias for symbol.

Example Usage:

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