Clingen Dosage Api Tools

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

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

Available Tools

ClinGen_dosage_by_gene (Type: ClinGenDosageTool)

Get ClinGen dosage sensitivity curation for a specific gene using the JSON API. Returns haploinsu…

ClinGen_dosage_by_gene tool specification

Tool Information:

  • Name: ClinGen_dosage_by_gene

  • Type: ClinGenDosageTool

  • Description: Get ClinGen dosage sensitivity curation for a specific gene using the JSON API. Returns haploinsufficiency (HI) and triplosensitivity (TS) assertion scores with genomic coordinates in both GRCh37 and GRCh38. Scores: 0=No evidence, 1=Little evidence, 2=Emerging evidence, 3=Sufficient evidence, 30=Gene associated with autosomal recessive phenotype, 40=Dosage sensitivity unlikely. Also includes pLI score, HI prediction score, and associated diseases with MONDO IDs.

Parameters:

  • gene (string) (required) Gene symbol to search for (e.g., ‘BRCA1’, ‘MECP2’, ‘TP53’). Case-insensitive.

Example Usage:

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

ClinGen_dosage_region_search (Type: ClinGenDosageTool)

Search ClinGen dosage sensitivity curations by genomic region. Returns all genes and recurrent CN…

ClinGen_dosage_region_search tool specification

Tool Information:

  • Name: ClinGen_dosage_region_search

  • Type: ClinGenDosageTool

  • Description: Search ClinGen dosage sensitivity curations by genomic region. Returns all genes and recurrent CNV regions with dosage sensitivity curations overlapping the specified chromosomal coordinates. Supports both GRCh37 and GRCh38. Results include haploinsufficiency and triplosensitivity scores. Useful for interpreting the clinical significance of deletions and duplications detected by chromosomal microarray.

Parameters:

  • chromosome (string) (required) Chromosome (e.g., ‘17’, ‘X’).

  • start (integer) (required) Start position.

  • end (integer) (required) End position.

  • assembly (string) (optional) Genome assembly version.

Example Usage:

query = {
    "name": "ClinGen_dosage_region_search",
    "arguments": {
        "chromosome": "example_value",
        "start": 10,
        "end": 10
    }
}
result = tu.run(query)