Eve Tools

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

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

Available Tools

EVE_get_gene_info (Type: EVETool)

Check if EVE scores are available for a gene and get gene information. EVE covers ~3,000 disease-…

EVE_get_gene_info tool specification

Tool Information:

  • Name: EVE_get_gene_info

  • Type: EVETool

  • Description: Check if EVE scores are available for a gene and get gene information. EVE covers ~3,000 disease-related human genes. Returns Ensembl ID and link to EVE website.

Parameters:

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

Example Usage:

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

EVE_get_variant_score (Type: EVETool)

Get EVE (Evolutionary Variant Effect) pathogenicity score for a variant. EVE uses unsupervised de…

EVE_get_variant_score tool specification

Tool Information:

  • Name: EVE_get_variant_score

  • Type: EVETool

  • Description: Get EVE (Evolutionary Variant Effect) pathogenicity score for a variant. EVE uses unsupervised deep learning on evolutionary data. Scores: 0-1 where >0.5 is likely pathogenic. Accessed via Ensembl VEP API.

Parameters:

  • variant (string) (optional) Variant in HGVS format (e.g., ‘ENST00000269305.4:c.100G>A’, ‘NM_000546.5:c.215C>G’)

  • chrom (string) (optional) Chromosome (1-22, X, Y). Use with pos, ref, alt instead of variant.

  • pos (integer) (optional) Genomic position (GRCh38)

  • ref (string) (optional) Reference allele

  • alt (string) (optional) Alternate allele

  • species (string) (optional) Species (default: human)

Example Usage:

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