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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: 18-55228988-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55228988&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 55228988,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001243226.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1738C>A",
          "hgvs_p": "p.Arg580Arg",
          "transcript": "NM_001083962.2",
          "protein_id": "NP_001077431.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000354452.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083962.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1738C>A",
          "hgvs_p": "p.Arg580Arg",
          "transcript": "ENST00000354452.8",
          "protein_id": "ENSP00000346440.3",
          "transcript_support_level": 5,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001083962.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354452.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.2044C>A",
          "hgvs_p": "p.Arg682Arg",
          "transcript": "ENST00000398339.5",
          "protein_id": "ENSP00000381382.1",
          "transcript_support_level": 1,
          "aa_start": 682,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 2044,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000398339.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1726C>A",
          "hgvs_p": "p.Arg576Arg",
          "transcript": "ENST00000356073.8",
          "protein_id": "ENSP00000348374.4",
          "transcript_support_level": 1,
          "aa_start": 576,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 1726,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000356073.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1717C>A",
          "hgvs_p": "p.Arg573Arg",
          "transcript": "ENST00000566286.5",
          "protein_id": "ENSP00000455418.2",
          "transcript_support_level": 1,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1717,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000566286.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1600C>A",
          "hgvs_p": "p.Arg534Arg",
          "transcript": "ENST00000543082.5",
          "protein_id": "ENSP00000439656.1",
          "transcript_support_level": 1,
          "aa_start": 534,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1600,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000543082.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1546C>A",
          "hgvs_p": "p.Arg516Arg",
          "transcript": "ENST00000567880.5",
          "protein_id": "ENSP00000454366.1",
          "transcript_support_level": 1,
          "aa_start": 516,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 1546,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000567880.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1513C>A",
          "hgvs_p": "p.Arg505Arg",
          "transcript": "ENST00000564228.5",
          "protein_id": "ENSP00000455261.1",
          "transcript_support_level": 1,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1513,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000564228.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1258C>A",
          "hgvs_p": "p.Arg420Arg",
          "transcript": "ENST00000457482.7",
          "protein_id": "ENSP00000409447.2",
          "transcript_support_level": 1,
          "aa_start": 420,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 1258,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000457482.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1246C>A",
          "hgvs_p": "p.Arg416Arg",
          "transcript": "ENST00000561831.7",
          "protein_id": "ENSP00000457765.1",
          "transcript_support_level": 1,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000561831.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1246C>A",
          "hgvs_p": "p.Arg416Arg",
          "transcript": "ENST00000570287.6",
          "protein_id": "ENSP00000455763.1",
          "transcript_support_level": 1,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000570287.6"
        },
        {
          "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.5261C>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": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000562680.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.2044C>A",
          "hgvs_p": "p.Arg682Arg",
          "transcript": "NM_001243226.3",
          "protein_id": "NP_001230155.2",
          "transcript_support_level": null,
          "aa_start": 682,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 2044,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243226.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1816C>A",
          "hgvs_p": "p.Arg606Arg",
          "transcript": "ENST00000936496.1",
          "protein_id": "ENSP00000606555.1",
          "transcript_support_level": null,
          "aa_start": 606,
          "aa_end": null,
          "aa_length": 697,
          "cds_start": 1816,
          "cds_end": null,
          "cds_length": 2094,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936496.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1765C>A",
          "hgvs_p": "p.Arg589Arg",
          "transcript": "ENST00000638154.3",
          "protein_id": "ENSP00000490625.2",
          "transcript_support_level": 5,
          "aa_start": 589,
          "aa_end": null,
          "aa_length": 680,
          "cds_start": 1765,
          "cds_end": null,
          "cds_length": 2043,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638154.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1756C>A",
          "hgvs_p": "p.Arg586Arg",
          "transcript": "NM_001243228.2",
          "protein_id": "NP_001230157.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243228.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1756C>A",
          "hgvs_p": "p.Arg586Arg",
          "transcript": "ENST00000564403.6",
          "protein_id": "ENSP00000457263.1",
          "transcript_support_level": 5,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000564403.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1738C>A",
          "hgvs_p": "p.Arg580Arg",
          "transcript": "NM_001369567.1",
          "protein_id": "NP_001356496.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369567.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1738C>A",
          "hgvs_p": "p.Arg580Arg",
          "transcript": "NM_001369568.1",
          "protein_id": "NP_001356497.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369568.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.1738C>A",
          "hgvs_p": "p.Arg580Arg",
          "transcript": "ENST00000629387.2",
          "protein_id": "ENSP00000486670.1",
          "transcript_support_level": 5,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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      ],
      "gene_symbol": "TCF4",
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      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3499999940395355,
      "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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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.35,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 8.056,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "mitotip_score": null,
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      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001243226.3",
          "gene_symbol": "TCF4",
          "hgnc_id": 11634,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2044C>A",
          "hgvs_p": "p.Arg682Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.