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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: 3-53718707-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53718707&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 53718707,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000350061.11",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1504G>A",
          "hgvs_p": "p.Ala502Thr",
          "transcript": "NM_000720.4",
          "protein_id": "NP_000711.1",
          "transcript_support_level": null,
          "aa_start": 502,
          "aa_end": null,
          "aa_length": 2181,
          "cds_start": 1504,
          "cds_end": null,
          "cds_length": 6546,
          "cdna_start": 2060,
          "cdna_end": null,
          "cdna_length": 9429,
          "mane_select": null,
          "mane_plus": "ENST00000288139.11",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1504G>A",
          "hgvs_p": "p.Ala502Thr",
          "transcript": "ENST00000288139.11",
          "protein_id": "ENSP00000288139.3",
          "transcript_support_level": 1,
          "aa_start": 502,
          "aa_end": null,
          "aa_length": 2181,
          "cds_start": 1504,
          "cds_end": null,
          "cds_length": 6546,
          "cdna_start": 2060,
          "cdna_end": null,
          "cdna_length": 9429,
          "mane_select": null,
          "mane_plus": "NM_000720.4",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1504G>A",
          "hgvs_p": "p.Ala502Thr",
          "transcript": "ENST00000481478.2",
          "protein_id": "ENSP00000418014.2",
          "transcript_support_level": 1,
          "aa_start": 502,
          "aa_end": null,
          "aa_length": 2181,
          "cds_start": 1504,
          "cds_end": null,
          "cds_length": 6546,
          "cdna_start": 2060,
          "cdna_end": null,
          "cdna_length": 7204,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1478+319G>A",
          "hgvs_p": null,
          "transcript": "NM_001128840.3",
          "protein_id": "NP_001122312.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2161,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9369,
          "mane_select": "ENST00000350061.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1478+319G>A",
          "hgvs_p": null,
          "transcript": "ENST00000350061.11",
          "protein_id": "ENSP00000288133.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2161,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9369,
          "mane_select": "NM_001128840.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1478+319G>A",
          "hgvs_p": null,
          "transcript": "ENST00000422281.7",
          "protein_id": "ENSP00000409174.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2137,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6414,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7211,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1477G>A",
          "hgvs_p": "p.Ala493Thr",
          "transcript": "ENST00000640483.1",
          "protein_id": "ENSP00000491921.1",
          "transcript_support_level": 5,
          "aa_start": 493,
          "aa_end": null,
          "aa_length": 1643,
          "cds_start": 1477,
          "cds_end": null,
          "cds_length": 4932,
          "cdna_start": 1477,
          "cdna_end": null,
          "cdna_length": 5673,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1504G>A",
          "hgvs_p": "p.Ala502Thr",
          "transcript": "ENST00000636627.2",
          "protein_id": "ENSP00000490889.2",
          "transcript_support_level": 5,
          "aa_start": 502,
          "aa_end": null,
          "aa_length": 1625,
          "cds_start": 1504,
          "cds_end": null,
          "cds_length": 4878,
          "cdna_start": 2060,
          "cdna_end": null,
          "cdna_length": 5665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_011534094.3",
          "protein_id": "XP_011532396.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2246,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6741,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 9083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007137.2",
          "protein_id": "XP_016862626.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2246,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6741,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 9083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007138.2",
          "protein_id": "XP_016862627.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2245,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6738,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 9080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007139.2",
          "protein_id": "XP_016862628.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2237,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6714,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 9056,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_047448871.1",
          "protein_id": "XP_047304827.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2222,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6669,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 9011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007142.2",
          "protein_id": "XP_016862631.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2218,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6657,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 8999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007143.2",
          "protein_id": "XP_016862632.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2218,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6657,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 8999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007144.2",
          "protein_id": "XP_016862633.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2218,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6657,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 8999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_017007145.2",
          "protein_id": "XP_016862634.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2203,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6612,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 8954,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1615G>A",
          "hgvs_p": "p.Ala539Thr",
          "transcript": "XM_047448872.1",
          "protein_id": "XP_047304828.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 2194,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 6585,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 8927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.1078G>A",
          "hgvs_p": "p.Ala360Thr",
          "transcript": "XM_011534097.3",
          "protein_id": "XP_011532399.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 2067,
          "cds_start": 1078,
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          "cds_length": 6204,
          "cdna_start": 2097,
          "cdna_end": null,
          "cdna_length": 9550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1D",
          "gene_hgnc_id": 1391,
          "hgvs_c": "c.703G>A",
          "hgvs_p": "p.Ala235Thr",
          "transcript": "XM_011534099.3",
          "protein_id": "XP_011532401.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 1942,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 5829,
          "cdna_start": 1082,
          "cdna_end": null,
          "cdna_length": 8535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 47,
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      "gene_symbol": "CACNA1D",
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      "dbsnp": "rs773409037",
      "frequency_reference_population": 0.00009298734,
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      "gnomad_exomes_homalt": 0,
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      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.012845814228057861,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.255,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.25,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.575,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "acmg_score": -16,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
      "acmg_by_gene": [
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          "pathogenic_score": 0,
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          "verdict": "Benign",
          "transcript": "ENST00000350061.11",
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      "clinvar_disease": "CACNA1D-related disorder,not provided,not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:4",
      "phenotype_combined": "CACNA1D-related disorder|not provided|not specified",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}