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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: 4-153315957-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153315957&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 153315957,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_015271.5",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1740T>C",
          "hgvs_p": "p.Asp580Asp",
          "transcript": "NM_015271.5",
          "protein_id": "NP_056086.2",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 1740,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": 1828,
          "cdna_end": null,
          "cdna_length": 6755,
          "mane_select": "ENST00000338700.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1740T>C",
          "hgvs_p": "p.Asp580Asp",
          "transcript": "ENST00000338700.10",
          "protein_id": "ENSP00000339659.5",
          "transcript_support_level": 1,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 1740,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": 1828,
          "cdna_end": null,
          "cdna_length": 6755,
          "mane_select": "NM_015271.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1659T>C",
          "hgvs_p": "p.Asp553Asp",
          "transcript": "ENST00000675838.1",
          "protein_id": "ENSP00000501593.1",
          "transcript_support_level": null,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1659,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": 1829,
          "cdna_end": null,
          "cdna_length": 3066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1659T>C",
          "hgvs_p": "p.Asp553Asp",
          "transcript": "ENST00000437508.7",
          "protein_id": "ENSP00000415812.2",
          "transcript_support_level": 1,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 1659,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": 1860,
          "cdna_end": null,
          "cdna_length": 3828,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1659T>C",
          "hgvs_p": "p.Asp553Asp",
          "transcript": "ENST00000494872.6",
          "protein_id": "ENSP00000488229.2",
          "transcript_support_level": 1,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": 1659,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": 1828,
          "cdna_end": null,
          "cdna_length": 2452,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1659T>C",
          "hgvs_p": "p.Asp553Asp",
          "transcript": "ENST00000675079.1",
          "protein_id": "ENSP00000502677.1",
          "transcript_support_level": null,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": 1659,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": 2688,
          "cdna_end": null,
          "cdna_length": 3962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1659T>C",
          "hgvs_p": "p.Asp553Asp",
          "transcript": "ENST00000674967.1",
          "protein_id": "ENSP00000501627.1",
          "transcript_support_level": null,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1659,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": 1825,
          "cdna_end": null,
          "cdna_length": 2981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1833T>C",
          "hgvs_p": "p.Asp611Asp",
          "transcript": "NM_001375488.1",
          "protein_id": "NP_001362417.1",
          "transcript_support_level": null,
          "aa_start": 611,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": 1833,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": 1921,
          "cdna_end": null,
          "cdna_length": 6848,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1830T>C",
          "hgvs_p": "p.Asp610Asp",
          "transcript": "NM_001375489.1",
          "protein_id": "NP_001362418.1",
          "transcript_support_level": null,
          "aa_start": 610,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": 1830,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": 1918,
          "cdna_end": null,
          "cdna_length": 6845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1806T>C",
          "hgvs_p": "p.Asp602Asp",
          "transcript": "ENST00000674847.1",
          "protein_id": "ENSP00000501983.1",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 797,
          "cds_start": 1806,
          "cds_end": null,
          "cds_length": 2394,
          "cdna_start": 2043,
          "cdna_end": null,
          "cdna_length": 6967,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288637",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1326T>C",
          "hgvs_p": "p.Asp442Asp",
          "transcript": "ENST00000675518.1",
          "protein_id": "ENSP00000501852.1",
          "transcript_support_level": null,
          "aa_start": 442,
          "aa_end": null,
          "aa_length": 787,
          "cds_start": 1326,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": 1555,
          "cdna_end": null,
          "cdna_length": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1740T>C",
          "hgvs_p": "p.Asp580Asp",
          "transcript": "NM_001438618.1",
          "protein_id": "NP_001425547.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 1740,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 1828,
          "cdna_end": null,
          "cdna_length": 6767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1752T>C",
          "hgvs_p": "p.Asp584Asp",
          "transcript": "ENST00000675063.1",
          "protein_id": "ENSP00000501562.1",
          "transcript_support_level": null,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 1752,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 1915,
          "cdna_end": null,
          "cdna_length": 6836,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1752T>C",
          "hgvs_p": "p.Asp584Asp",
          "transcript": "ENST00000675673.1",
          "protein_id": "ENSP00000502083.1",
          "transcript_support_level": null,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 1752,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 1920,
          "cdna_end": null,
          "cdna_length": 6841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1737T>C",
          "hgvs_p": "p.Asp579Asp",
          "transcript": "NM_001438619.1",
          "protein_id": "NP_001425548.1",
          "transcript_support_level": null,
          "aa_start": 579,
          "aa_end": null,
          "aa_length": 774,
          "cds_start": 1737,
          "cds_end": null,
          "cds_length": 2325,
          "cdna_start": 1825,
          "cdna_end": null,
          "cdna_length": 6764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1737T>C",
          "hgvs_p": "p.Asp579Asp",
          "transcript": "NM_001438620.1",
          "protein_id": "NP_001425549.1",
          "transcript_support_level": null,
          "aa_start": 579,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1737,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": 1825,
          "cdna_end": null,
          "cdna_length": 6752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1713T>C",
          "hgvs_p": "p.Asp571Asp",
          "transcript": "NM_001351054.2",
          "protein_id": "NP_001337983.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1713,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 1939,
          "cdna_end": null,
          "cdna_length": 6878,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1713T>C",
          "hgvs_p": "p.Asp571Asp",
          "transcript": "ENST00000674935.1",
          "protein_id": "ENSP00000501672.1",
          "transcript_support_level": null,
          "aa_start": 571,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1713,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 1971,
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          "cdna_length": 6896,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1710T>C",
          "hgvs_p": "p.Asp570Asp",
          "transcript": "NM_001351055.2",
          "protein_id": "NP_001337984.1",
          "transcript_support_level": null,
          "aa_start": 570,
          "aa_end": null,
          "aa_length": 765,
          "cds_start": 1710,
          "cds_end": null,
          "cds_length": 2298,
          "cdna_start": 1936,
          "cdna_end": null,
          "cdna_length": 6875,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM2",
          "gene_hgnc_id": 15974,
          "hgvs_c": "c.1710T>C",
          "hgvs_p": "p.Asp570Asp",
          "transcript": "ENST00000674726.1",
          "protein_id": "ENSP00000502266.1",
          "transcript_support_level": null,
          "aa_start": 570,
          "aa_end": null,
          "aa_length": 765,
          "cds_start": 1710,
          "cds_end": null,
          "cds_length": 2298,
          "cdna_start": 1936,
          "cdna_end": null,
          "cdna_length": 6860,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
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      "allele_count_reference_population": 71,
      "gnomad_exomes_af": 0.0000462657,
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      "gnomad_exomes_homalt": 0,
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      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": null,
      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.5,
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      "phylop100way_score": 0.236,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "acmg_score": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "NM_015271.5",
          "gene_symbol": "TRIM2",
          "hgnc_id": 15974,
          "effects": [
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          "verdict": "Likely_benign",
          "transcript": "ENST00000675838.1",
          "gene_symbol": "ENSG00000288637",
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          "effects": [
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          "inheritance_mode": "",
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      "clinvar_disease": "Charcot-Marie-Tooth disease type 2R",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Charcot-Marie-Tooth disease type 2R",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}