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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: 18-55232660-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55232660&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 55232660,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000354452.8",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg",
          "transcript": "NM_001083962.2",
          "protein_id": "NP_001077431.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1498,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": 1673,
          "cdna_end": null,
          "cdna_length": 8041,
          "mane_select": "ENST00000354452.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg",
          "transcript": "ENST00000354452.8",
          "protein_id": "ENSP00000346440.3",
          "transcript_support_level": 5,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1498,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": 1673,
          "cdna_end": null,
          "cdna_length": 8041,
          "mane_select": "NM_001083962.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1804G>A",
          "hgvs_p": "p.Gly602Arg",
          "transcript": "ENST00000398339.5",
          "protein_id": "ENSP00000381382.1",
          "transcript_support_level": 1,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 1804,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": 1934,
          "cdna_end": null,
          "cdna_length": 2551,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg",
          "transcript": "ENST00000356073.8",
          "protein_id": "ENSP00000348374.4",
          "transcript_support_level": 1,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 1498,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 2110,
          "cdna_end": null,
          "cdna_length": 8317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1489G>A",
          "hgvs_p": "p.Gly497Arg",
          "transcript": "ENST00000566286.5",
          "protein_id": "ENSP00000455418.2",
          "transcript_support_level": 1,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1489,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": 1489,
          "cdna_end": null,
          "cdna_length": 2119,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1372G>A",
          "hgvs_p": "p.Gly458Arg",
          "transcript": "ENST00000543082.5",
          "protein_id": "ENSP00000439656.1",
          "transcript_support_level": 1,
          "aa_start": 458,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1372,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": 1547,
          "cdna_end": null,
          "cdna_length": 2399,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1318G>A",
          "hgvs_p": "p.Gly440Arg",
          "transcript": "ENST00000567880.5",
          "protein_id": "ENSP00000454366.1",
          "transcript_support_level": 1,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 1318,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": 1318,
          "cdna_end": null,
          "cdna_length": 1948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1285G>A",
          "hgvs_p": "p.Gly429Arg",
          "transcript": "ENST00000564228.5",
          "protein_id": "ENSP00000455261.1",
          "transcript_support_level": 1,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": 1285,
          "cdna_end": null,
          "cdna_length": 1915,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1018G>A",
          "hgvs_p": "p.Gly340Arg",
          "transcript": "ENST00000457482.7",
          "protein_id": "ENSP00000409447.2",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 1018,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": 1502,
          "cdna_end": null,
          "cdna_length": 2372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1018G>A",
          "hgvs_p": "p.Gly340Arg",
          "transcript": "ENST00000561831.7",
          "protein_id": "ENSP00000457765.1",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1018,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1160,
          "cdna_end": null,
          "cdna_length": 1823,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1018G>A",
          "hgvs_p": "p.Gly340Arg",
          "transcript": "ENST00000570287.6",
          "protein_id": "ENSP00000455763.1",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1018,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1266,
          "cdna_end": null,
          "cdna_length": 3163,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "n.1589G>A",
          "hgvs_p": null,
          "transcript": "ENST00000562680.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 5733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1804G>A",
          "hgvs_p": "p.Gly602Arg",
          "transcript": "NM_001243226.3",
          "protein_id": "NP_001230155.2",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 1804,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": 1864,
          "cdna_end": null,
          "cdna_length": 8232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1525G>A",
          "hgvs_p": "p.Gly509Arg",
          "transcript": "ENST00000638154.3",
          "protein_id": "ENSP00000490625.2",
          "transcript_support_level": 5,
          "aa_start": 509,
          "aa_end": null,
          "aa_length": 680,
          "cds_start": 1525,
          "cds_end": null,
          "cds_length": 2043,
          "cdna_start": 1728,
          "cdna_end": null,
          "cdna_length": 7946,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1516G>A",
          "hgvs_p": "p.Gly506Arg",
          "transcript": "NM_001243228.2",
          "protein_id": "NP_001230157.1",
          "transcript_support_level": null,
          "aa_start": 506,
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          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": 2051,
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          "cdna_length": 8419,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1516G>A",
          "hgvs_p": "p.Gly506Arg",
          "transcript": "ENST00000564403.6",
          "protein_id": "ENSP00000457263.1",
          "transcript_support_level": 5,
          "aa_start": 506,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1516,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": 2079,
          "cdna_end": null,
          "cdna_length": 2696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg",
          "transcript": "NM_001369567.1",
          "protein_id": "NP_001356496.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1498,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": 2033,
          "cdna_end": null,
          "cdna_length": 8401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg",
          "transcript": "NM_001369568.1",
          "protein_id": "NP_001356497.1",
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          "aa_length": 671,
          "cds_start": 1498,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": 1666,
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          "cdna_length": 8034,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg",
          "transcript": "ENST00000629387.2",
          "protein_id": "ENSP00000486670.1",
          "transcript_support_level": 5,
          "aa_start": 500,
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          "cds_start": 1498,
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          "cds_length": 2016,
          "cdna_start": 2029,
          "cdna_end": null,
          "cdna_length": 3789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1495G>A",
          "hgvs_p": "p.Gly499Arg",
          "transcript": "NM_001330604.3",
          "protein_id": "NP_001317533.1",
          "transcript_support_level": null,
          "aa_start": 499,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": 1495,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": 1670,
          "cdna_end": null,
          "cdna_length": 8038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
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        {
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        },
        {
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          ],
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          "hgvs_c": "c.1529+1757G>A",
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          "transcript": "ENST00000635822.2",
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        }
      ],
      "gene_symbol": "TCF4",
      "gene_hgnc_id": 11634,
      "dbsnp": "rs587784459",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.5819188356399536,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.368,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.51,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.23,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.443,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM1,PM2",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM1",
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000354452.8",
          "gene_symbol": "TCF4",
          "hgnc_id": 11634,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Gly500Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}