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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: 7-148811688-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148811688&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 148811688,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000320356.7",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1884C>T",
          "hgvs_p": "p.Gly628Gly",
          "transcript": "NM_004456.5",
          "protein_id": "NP_004447.2",
          "transcript_support_level": null,
          "aa_start": 628,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1884,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": 2019,
          "cdna_end": null,
          "cdna_length": 2654,
          "mane_select": "ENST00000320356.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1884C>T",
          "hgvs_p": "p.Gly628Gly",
          "transcript": "ENST00000320356.7",
          "protein_id": "ENSP00000320147.2",
          "transcript_support_level": 1,
          "aa_start": 628,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1884,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": 2019,
          "cdna_end": null,
          "cdna_length": 2654,
          "mane_select": "NM_004456.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1869C>T",
          "hgvs_p": "p.Gly623Gly",
          "transcript": "ENST00000460911.5",
          "protein_id": "ENSP00000419711.1",
          "transcript_support_level": 1,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 1958,
          "cdna_end": null,
          "cdna_length": 2591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1752C>T",
          "hgvs_p": "p.Gly584Gly",
          "transcript": "ENST00000350995.6",
          "protein_id": "ENSP00000223193.2",
          "transcript_support_level": 1,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1752,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 1844,
          "cdna_end": null,
          "cdna_length": 2477,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1869C>T",
          "hgvs_p": "p.Gly623Gly",
          "transcript": "NM_001203247.2",
          "protein_id": "NP_001190176.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 2004,
          "cdna_end": null,
          "cdna_length": 2639,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1842C>T",
          "hgvs_p": "p.Gly614Gly",
          "transcript": "NM_001203248.2",
          "protein_id": "NP_001190177.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 1842,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": 1977,
          "cdna_end": null,
          "cdna_length": 2612,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1842C>T",
          "hgvs_p": "p.Gly614Gly",
          "transcript": "ENST00000483967.5",
          "protein_id": "ENSP00000419856.1",
          "transcript_support_level": 2,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 1842,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": 1973,
          "cdna_end": null,
          "cdna_length": 2466,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1752C>T",
          "hgvs_p": "p.Gly584Gly",
          "transcript": "NM_152998.3",
          "protein_id": "NP_694543.1",
          "transcript_support_level": null,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1752,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 1887,
          "cdna_end": null,
          "cdna_length": 2522,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1716C>T",
          "hgvs_p": "p.Gly572Gly",
          "transcript": "NM_001203249.2",
          "protein_id": "NP_001190178.1",
          "transcript_support_level": null,
          "aa_start": 572,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": 1716,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": 2012,
          "cdna_end": null,
          "cdna_length": 2647,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1716C>T",
          "hgvs_p": "p.Gly572Gly",
          "transcript": "ENST00000476773.5",
          "protein_id": "ENSP00000419050.1",
          "transcript_support_level": 2,
          "aa_start": 572,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": 1716,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": 2036,
          "cdna_end": null,
          "cdna_length": 2572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1716C>T",
          "hgvs_p": "p.Gly572Gly",
          "transcript": "ENST00000478654.5",
          "protein_id": "ENSP00000417062.1",
          "transcript_support_level": 5,
          "aa_start": 572,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": 1716,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": 1888,
          "cdna_end": null,
          "cdna_length": 2522,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1908C>T",
          "hgvs_p": "p.Gly636Gly",
          "transcript": "XM_011515883.3",
          "protein_id": "XP_011514185.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
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          "cds_start": 1908,
          "cds_end": null,
          "cds_length": 2280,
          "cdna_start": 2052,
          "cdna_end": null,
          "cdna_length": 2687,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1908C>T",
          "hgvs_p": "p.Gly636Gly",
          "transcript": "XM_017011817.3",
          "protein_id": "XP_016867306.1",
          "transcript_support_level": null,
          "aa_start": 636,
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          "aa_length": 759,
          "cds_start": 1908,
          "cds_end": null,
          "cds_length": 2280,
          "cdna_start": 11767,
          "cdna_end": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1908C>T",
          "hgvs_p": "p.Gly636Gly",
          "transcript": "XM_047419989.1",
          "protein_id": "XP_047275945.1",
          "transcript_support_level": null,
          "aa_start": 636,
          "aa_end": null,
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          "cds_start": 1908,
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          "cdna_start": 2252,
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          "cdna_length": 2887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1893C>T",
          "hgvs_p": "p.Gly631Gly",
          "transcript": "XM_005249962.5",
          "protein_id": "XP_005250019.1",
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          "cds_start": 1893,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1893C>T",
          "hgvs_p": "p.Gly631Gly",
          "transcript": "XM_047419990.1",
          "protein_id": "XP_047275946.1",
          "transcript_support_level": null,
          "aa_start": 631,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1893,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 2065,
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          "cdna_length": 2700,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1884C>T",
          "hgvs_p": "p.Gly628Gly",
          "transcript": "XM_047419991.1",
          "protein_id": "XP_047275947.1",
          "transcript_support_level": null,
          "aa_start": 628,
          "aa_end": null,
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          "cds_start": 1884,
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          "cdna_start": 2007,
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          "cdna_length": 2642,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1881C>T",
          "hgvs_p": "p.Gly627Gly",
          "transcript": "XM_011515885.3",
          "protein_id": "XP_011514187.1",
          "transcript_support_level": null,
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          "aa_length": 750,
          "cds_start": 1881,
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          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1869C>T",
          "hgvs_p": "p.Gly623Gly",
          "transcript": "XM_047419992.1",
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        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EZH2",
          "gene_hgnc_id": 3527,
          "hgvs_c": "c.1866C>T",
          "hgvs_p": "p.Gly622Gly",
          "transcript": "XM_005249963.5",
          "protein_id": "XP_005250020.1",
          "transcript_support_level": null,
          "aa_start": 622,
          "aa_end": null,
          "aa_length": 745,
          "cds_start": 1866,
          "cds_end": null,
          "cds_length": 2238,
          "cdna_start": 11725,
          "cdna_end": null,
          "cdna_length": 12360,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
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