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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: 6-29608616-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29608616&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 29608616,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000377034.9",
      "consequences": [
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1977T>C",
          "hgvs_p": "p.Phe659Phe",
          "transcript": "NM_001470.4",
          "protein_id": "NP_001461.1",
          "transcript_support_level": null,
          "aa_start": 659,
          "aa_end": null,
          "aa_length": 961,
          "cds_start": 1977,
          "cds_end": null,
          "cds_length": 2886,
          "cdna_start": 2311,
          "cdna_end": null,
          "cdna_length": 4525,
          "mane_select": "ENST00000377034.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1977T>C",
          "hgvs_p": "p.Phe659Phe",
          "transcript": "ENST00000377034.9",
          "protein_id": "ENSP00000366233.4",
          "transcript_support_level": 1,
          "aa_start": 659,
          "aa_end": null,
          "aa_length": 961,
          "cds_start": 1977,
          "cds_end": null,
          "cds_length": 2886,
          "cdna_start": 2311,
          "cdna_end": null,
          "cdna_length": 4525,
          "mane_select": "NM_001470.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1626T>C",
          "hgvs_p": "p.Phe542Phe",
          "transcript": "ENST00000377012.9",
          "protein_id": "ENSP00000366211.4",
          "transcript_support_level": 1,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1626,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1848,
          "cdna_end": null,
          "cdna_length": 4062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1992T>C",
          "hgvs_p": "p.Phe664Phe",
          "transcript": "ENST00000476670.3",
          "protein_id": "ENSP00000417332.2",
          "transcript_support_level": 4,
          "aa_start": 664,
          "aa_end": null,
          "aa_length": 966,
          "cds_start": 1992,
          "cds_end": null,
          "cds_length": 2901,
          "cdna_start": 2078,
          "cdna_end": null,
          "cdna_length": 4118,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1977T>C",
          "hgvs_p": "p.Phe659Phe",
          "transcript": "ENST00000462632.6",
          "protein_id": "ENSP00000419755.2",
          "transcript_support_level": 4,
          "aa_start": 659,
          "aa_end": null,
          "aa_length": 961,
          "cds_start": 1977,
          "cds_end": null,
          "cds_length": 2886,
          "cdna_start": 2116,
          "cdna_end": null,
          "cdna_length": 4326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1977T>C",
          "hgvs_p": "p.Phe659Phe",
          "transcript": "ENST00000706533.1",
          "protein_id": "ENSP00000516435.1",
          "transcript_support_level": null,
          "aa_start": 659,
          "aa_end": null,
          "aa_length": 961,
          "cds_start": 1977,
          "cds_end": null,
          "cds_length": 2886,
          "cdna_start": 2142,
          "cdna_end": null,
          "cdna_length": 4310,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1791T>C",
          "hgvs_p": "p.Phe597Phe",
          "transcript": "NM_021904.4",
          "protein_id": "NP_068704.2",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": 2125,
          "cdna_end": null,
          "cdna_length": 4339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1791T>C",
          "hgvs_p": "p.Phe597Phe",
          "transcript": "ENST00000377016.8",
          "protein_id": "ENSP00000366215.4",
          "transcript_support_level": 5,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": 2077,
          "cdna_end": null,
          "cdna_length": 4299,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1626T>C",
          "hgvs_p": "p.Phe542Phe",
          "transcript": "NM_021903.3",
          "protein_id": "NP_068703.1",
          "transcript_support_level": null,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1626,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1848,
          "cdna_end": null,
          "cdna_length": 4062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1626T>C",
          "hgvs_p": "p.Phe542Phe",
          "transcript": "ENST00000355973.7",
          "protein_id": "ENSP00000348248.3",
          "transcript_support_level": 2,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1626,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1873,
          "cdna_end": null,
          "cdna_length": 3506,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1446T>C",
          "hgvs_p": "p.Phe482Phe",
          "transcript": "NM_001319053.2",
          "protein_id": "NP_001305982.1",
          "transcript_support_level": null,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 784,
          "cds_start": 1446,
          "cds_end": null,
          "cds_length": 2355,
          "cdna_start": 2247,
          "cdna_end": null,
          "cdna_length": 4461,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1992T>C",
          "hgvs_p": "p.Phe664Phe",
          "transcript": "XM_005248982.3",
          "protein_id": "XP_005249039.1",
          "transcript_support_level": null,
          "aa_start": 664,
          "aa_end": null,
          "aa_length": 966,
          "cds_start": 1992,
          "cds_end": null,
          "cds_length": 2901,
          "cdna_start": 2078,
          "cdna_end": null,
          "cdna_length": 4292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1806T>C",
          "hgvs_p": "p.Phe602Phe",
          "transcript": "XM_006715047.5",
          "protein_id": "XP_006715110.1",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 904,
          "cds_start": 1806,
          "cds_end": null,
          "cds_length": 2715,
          "cdna_start": 1870,
          "cdna_end": null,
          "cdna_length": 4084,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1785T>C",
          "hgvs_p": "p.Phe595Phe",
          "transcript": "XM_011514453.4",
          "protein_id": "XP_011512755.1",
          "transcript_support_level": null,
          "aa_start": 595,
          "aa_end": null,
          "aa_length": 897,
          "cds_start": 1785,
          "cds_end": null,
          "cds_length": 2694,
          "cdna_start": 1848,
          "cdna_end": null,
          "cdna_length": 4062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1446T>C",
          "hgvs_p": "p.Phe482Phe",
          "transcript": "XM_047418591.1",
          "protein_id": "XP_047274547.1",
          "transcript_support_level": null,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 784,
          "cds_start": 1446,
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          "cds_length": 2355,
          "cdna_start": 2370,
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          "cdna_length": 4584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1428T>C",
          "hgvs_p": "p.Phe476Phe",
          "transcript": "XM_024446392.2",
          "protein_id": "XP_024302160.1",
          "transcript_support_level": null,
          "aa_start": 476,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1428,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 1526,
          "cdna_end": null,
          "cdna_length": 3740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "F",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "c.1992T>C",
          "hgvs_p": "p.Phe664Phe",
          "transcript": "XM_011514455.2",
          "protein_id": "XP_011512757.1",
          "transcript_support_level": null,
          "aa_start": 664,
          "aa_end": null,
          "aa_length": 680,
          "cds_start": 1992,
          "cds_end": null,
          "cds_length": 2043,
          "cdna_start": 2061,
          "cdna_end": null,
          "cdna_length": 3449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "n.*1384T>C",
          "hgvs_p": null,
          "transcript": "ENST00000472823.5",
          "protein_id": "ENSP00000419356.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4286,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "n.503T>C",
          "hgvs_p": null,
          "transcript": "ENST00000473774.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABBR1",
          "gene_hgnc_id": 4070,
          "hgvs_c": "n.245T>C",
          "hgvs_p": null,
          "transcript": "ENST00000489839.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 407,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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      ],
      "gene_symbol": "GABBR1",
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      "dbsnp": "rs29230",
      "frequency_reference_population": 0.17551678,
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      "gnomad_exomes_af": 0.176296,
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      "gnomad_genomes_homalt": 2425,
      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": 0.13699999451637268,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.137,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.65,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.333,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
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      "acmg_score": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP7,BA1",
      "acmg_by_gene": [
        {
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          "benign_score": 11,
          "pathogenic_score": 0,
          "criteria": [
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            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000377034.9",
          "gene_symbol": "GABBR1",
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          "effects": [
            "synonymous_variant"
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          "inheritance_mode": "AD",
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          "hgvs_p": "p.Phe659Phe"
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}