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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: 11-118094815-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118094815&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 118094815,
      "ref": "A",
      "alt": "T",
      "effect": "splice_acceptor_variant,intron_variant",
      "transcript": "NM_019894.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null,
          "transcript": "NM_019894.4",
          "protein_id": "NP_063947.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 437,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1314,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5516,
          "mane_select": "ENST00000437212.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019894.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null,
          "transcript": "ENST00000437212.8",
          "protein_id": "ENSP00000416037.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 437,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1314,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5516,
          "mane_select": "NM_019894.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000437212.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null,
          "transcript": "ENST00000522824.5",
          "protein_id": "ENSP00000430547.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000522824.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "n.269-7A>T",
          "hgvs_p": null,
          "transcript": "ENST00000519126.1",
          "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": 847,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000519126.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "n.4-1A>T",
          "hgvs_p": null,
          "transcript": "ENST00000714375.1",
          "protein_id": "ENSP00000519642.1",
          "transcript_support_level": null,
          "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": 1600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000714375.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "n.4-1A>T",
          "hgvs_p": null,
          "transcript": "ENST00000714378.1",
          "protein_id": "ENSP00000519645.1",
          "transcript_support_level": null,
          "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": 2206,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000714378.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null,
          "transcript": "ENST00000951076.1",
          "protein_id": "ENSP00000621135.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951076.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "ENST00000896311.1",
          "protein_id": "ENSP00000566370.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896311.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "NM_001173551.2",
          "protein_id": "NP_001167022.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 435,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1308,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001173551.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "ENST00000534111.5",
          "protein_id": "ENSP00000435184.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 435,
          "cds_start": null,
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          "cds_length": 1308,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5550,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000534111.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "ENST00000896313.1",
          "protein_id": "ENSP00000566372.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
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          "cdna_length": 2075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896313.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null,
          "transcript": "NM_001083947.2",
          "protein_id": "NP_001077416.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 432,
          "cds_start": null,
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          "cds_length": 1299,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083947.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.-76-7A>T",
          "hgvs_p": null,
          "transcript": "NM_001290094.2",
          "protein_id": "NP_001277023.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 412,
          "cds_start": null,
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          "cds_length": 1239,
          "cdna_start": null,
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          "cdna_length": 5520,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290094.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "ENST00000896314.1",
          "protein_id": "ENSP00000566373.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          "strand": true,
          "consequences": [
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            "intron_variant"
          ],
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          "intron_rank": 1,
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          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null,
          "transcript": "ENST00000616579.4",
          "protein_id": "ENSP00000478147.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 399,
          "cds_start": null,
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          "cds_length": 1200,
          "cdna_start": null,
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          "cdna_length": 3417,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000616579.4"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "NM_001173552.2",
          "protein_id": "NP_001167023.2",
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          "cdna_start": null,
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          "cdna_length": 5396,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001173552.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
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          "transcript": "ENST00000523251.5",
          "protein_id": "ENSP00000429209.1",
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        },
        {
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          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
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          "transcript": "ENST00000896312.1",
          "protein_id": "ENSP00000566371.1",
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
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          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.4-7A>T",
          "hgvs_p": null,
          "transcript": "ENST00000522151.6",
          "protein_id": "ENSP00000428407.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": null,
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          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000522151.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMPRSS4",
          "gene_hgnc_id": 11878,
          "hgvs_c": "c.-353-7A>T",
          "hgvs_p": null,
          "transcript": "NM_001290096.2",
          "protein_id": "NP_001277025.2",
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      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7400000095367432,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.03999999910593033,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.74,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.024,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.04,
      "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": "PVS1_Moderate,PM2",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PVS1_Moderate",
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_019894.4",
          "gene_symbol": "TMPRSS4",
          "hgnc_id": 11878,
          "effects": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.4-1A>T",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_007062901.1",
          "gene_symbol": "LOC105369517",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.303+334T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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