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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: 9-136899648-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136899648&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 15,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BS2"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "TRAF2",
          "hgnc_id": 12032,
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "inheritance_mode": "AD",
          "pathogenic_score": 0,
          "score": -15,
          "transcript": "NM_021138.4",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
      "acmg_score": -15,
      "allele_count_reference_population": 4888,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "T",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.42,
      "chr": "9",
      "clinvar_classification": "Benign",
      "clinvar_disease": "not provided",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.41999998688697815,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2266,
          "cdna_start": 297,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "NM_021138.4",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000247668.7",
          "protein_coding": true,
          "protein_id": "NP_066961.2",
          "strand": true,
          "transcript": "NM_021138.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2266,
          "cdna_start": 297,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000247668.7",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_021138.4",
          "protein_coding": true,
          "protein_id": "ENSP00000247668.2",
          "strand": true,
          "transcript": "ENST00000247668.7",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 553,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2519,
          "cdna_start": 395,
          "cds_end": null,
          "cds_length": 1662,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882556.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552615.1",
          "strand": true,
          "transcript": "ENST00000882556.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 533,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2394,
          "cdna_start": 321,
          "cds_end": null,
          "cds_length": 1602,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882557.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552616.1",
          "strand": true,
          "transcript": "ENST00000882557.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 533,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2367,
          "cdna_start": 302,
          "cds_end": null,
          "cds_length": 1602,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882565.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552624.1",
          "strand": true,
          "transcript": "ENST00000882565.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 533,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3448,
          "cdna_start": 1385,
          "cds_end": null,
          "cds_length": 1602,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000936026.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000606085.1",
          "strand": true,
          "transcript": "ENST00000936026.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4880,
          "cdna_start": 297,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000850853.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000520942.1",
          "strand": true,
          "transcript": "ENST00000850853.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4802,
          "cdna_start": 395,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000882552.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552611.1",
          "strand": true,
          "transcript": "ENST00000882552.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2447,
          "cdna_start": 477,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000882553.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552612.1",
          "strand": true,
          "transcript": "ENST00000882553.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2424,
          "cdna_start": 456,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000882554.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552613.1",
          "strand": true,
          "transcript": "ENST00000882554.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2891,
          "cdna_start": 330,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882555.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552614.1",
          "strand": true,
          "transcript": "ENST00000882555.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2441,
          "cdna_start": 471,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000882560.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552619.1",
          "strand": true,
          "transcript": "ENST00000882560.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2528,
          "cdna_start": 558,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000882562.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552621.1",
          "strand": true,
          "transcript": "ENST00000882562.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2461,
          "cdna_start": 491,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000882563.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552622.1",
          "strand": true,
          "transcript": "ENST00000882563.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2275,
          "cdna_start": 298,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882570.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552629.1",
          "strand": true,
          "transcript": "ENST00000882570.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2276,
          "cdna_start": 301,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882572.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552631.1",
          "strand": true,
          "transcript": "ENST00000882572.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2444,
          "cdna_start": 468,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882573.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552632.1",
          "strand": true,
          "transcript": "ENST00000882573.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2323,
          "cdna_start": 354,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882574.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000552633.1",
          "strand": true,
          "transcript": "ENST00000882574.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 501,
          "aa_ref": "G",
          "aa_start": 81,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2485,
          "cdna_start": 516,
          "cds_end": null,
          "cds_length": 1506,
          "cds_start": 243,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000882575.1",
          "gene_hgnc_id": 12032,
          "gene_symbol": "TRAF2",
          "hgvs_c": "c.243C>T",
          "hgvs_p": "p.Gly81Gly",
          "intron_rank": null,
          "intron_rank_end": null,
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}
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