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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 10-13222128-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13222128&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 13222128,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000378681.8",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UCMA",
          "gene_hgnc_id": 25205,
          "hgvs_c": "c.392A>G",
          "hgvs_p": "p.Tyr131Cys",
          "transcript": "NM_145314.3",
          "protein_id": "NP_660357.2",
          "transcript_support_level": null,
          "aa_start": 131,
          "aa_end": null,
          "aa_length": 138,
          "cds_start": 392,
          "cds_end": null,
          "cds_length": 417,
          "cdna_start": 508,
          "cdna_end": null,
          "cdna_length": 870,
          "mane_select": "ENST00000378681.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UCMA",
          "gene_hgnc_id": 25205,
          "hgvs_c": "c.392A>G",
          "hgvs_p": "p.Tyr131Cys",
          "transcript": "ENST00000378681.8",
          "protein_id": "ENSP00000367952.3",
          "transcript_support_level": 1,
          "aa_start": 131,
          "aa_end": null,
          "aa_length": 138,
          "cds_start": 392,
          "cds_end": null,
          "cds_length": 417,
          "cdna_start": 508,
          "cdna_end": null,
          "cdna_length": 870,
          "mane_select": "NM_145314.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UCMA",
          "gene_hgnc_id": 25205,
          "hgvs_c": "c.326A>G",
          "hgvs_p": "p.Tyr109Cys",
          "transcript": "ENST00000463405.2",
          "protein_id": "ENSP00000473368.1",
          "transcript_support_level": 5,
          "aa_start": 109,
          "aa_end": null,
          "aa_length": 116,
          "cds_start": 326,
          "cds_end": null,
          "cds_length": 351,
          "cdna_start": 402,
          "cdna_end": null,
          "cdna_length": 763,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UCMA",
          "gene_hgnc_id": 25205,
          "hgvs_c": "c.296A>G",
          "hgvs_p": "p.Tyr99Cys",
          "transcript": "NM_001303118.2",
          "protein_id": "NP_001290047.1",
          "transcript_support_level": null,
          "aa_start": 99,
          "aa_end": null,
          "aa_length": 106,
          "cds_start": 296,
          "cds_end": null,
          "cds_length": 321,
          "cdna_start": 412,
          "cdna_end": null,
          "cdna_length": 774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UCMA",
          "gene_hgnc_id": 25205,
          "hgvs_c": "c.230A>G",
          "hgvs_p": "p.Tyr77Cys",
          "transcript": "NM_001303119.2",
          "protein_id": "NP_001290048.1",
          "transcript_support_level": null,
          "aa_start": 77,
          "aa_end": null,
          "aa_length": 84,
          "cds_start": 230,
          "cds_end": null,
          "cds_length": 255,
          "cdna_start": 346,
          "cdna_end": null,
          "cdna_length": 708,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "UCMA",
      "gene_hgnc_id": 25205,
      "dbsnp": "rs2281796",
      "frequency_reference_population": 0.00000889272,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 13,
      "gnomad_exomes_af": 0.00000889272,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 13,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6398255228996277,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.6,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.3594,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.33,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.72,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000378681.8",
          "gene_symbol": "UCMA",
          "hgnc_id": 25205,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.392A>G",
          "hgvs_p": "p.Tyr131Cys"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}