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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: 16-2088529-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2088529&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 2088529,
      "ref": "A",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_000548.5",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5343A>T",
          "hgvs_p": "p.Pro1781Pro",
          "transcript": "NM_000548.5",
          "protein_id": "NP_000539.2",
          "transcript_support_level": null,
          "aa_start": 1781,
          "aa_end": null,
          "aa_length": 1807,
          "cds_start": 5343,
          "cds_end": null,
          "cds_length": 5424,
          "cdna_start": 5453,
          "cdna_end": null,
          "cdna_length": 6415,
          "mane_select": "ENST00000219476.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5343A>T",
          "hgvs_p": "p.Pro1781Pro",
          "transcript": "ENST00000219476.9",
          "protein_id": "ENSP00000219476.3",
          "transcript_support_level": 5,
          "aa_start": 1781,
          "aa_end": null,
          "aa_length": 1807,
          "cds_start": 5343,
          "cds_end": null,
          "cds_length": 5424,
          "cdna_start": 5453,
          "cdna_end": null,
          "cdna_length": 6415,
          "mane_select": "NM_000548.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5274A>T",
          "hgvs_p": "p.Pro1758Pro",
          "transcript": "ENST00000350773.9",
          "protein_id": "ENSP00000344383.4",
          "transcript_support_level": 1,
          "aa_start": 1758,
          "aa_end": null,
          "aa_length": 1784,
          "cds_start": 5274,
          "cds_end": null,
          "cds_length": 5355,
          "cdna_start": 5349,
          "cdna_end": null,
          "cdna_length": 5538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5142A>T",
          "hgvs_p": "p.Pro1714Pro",
          "transcript": "ENST00000401874.7",
          "protein_id": "ENSP00000384468.2",
          "transcript_support_level": 1,
          "aa_start": 1714,
          "aa_end": null,
          "aa_length": 1740,
          "cds_start": 5142,
          "cds_end": null,
          "cds_length": 5223,
          "cdna_start": 5248,
          "cdna_end": null,
          "cdna_length": 5437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "n.*4510A>T",
          "hgvs_p": null,
          "transcript": "ENST00000439117.6",
          "protein_id": "ENSP00000406980.2",
          "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": 5073,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "n.*4510A>T",
          "hgvs_p": null,
          "transcript": "ENST00000439117.6",
          "protein_id": "ENSP00000406980.2",
          "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": 5073,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5433A>T",
          "hgvs_p": "p.Pro1811Pro",
          "transcript": "ENST00000645186.2",
          "protein_id": "ENSP00000495110.2",
          "transcript_support_level": null,
          "aa_start": 1811,
          "aa_end": null,
          "aa_length": 1837,
          "cds_start": 5433,
          "cds_end": null,
          "cds_length": 5514,
          "cdna_start": 5543,
          "cdna_end": null,
          "cdna_length": 6505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5340A>T",
          "hgvs_p": "p.Pro1780Pro",
          "transcript": "NM_001406663.1",
          "protein_id": "NP_001393592.1",
          "transcript_support_level": null,
          "aa_start": 1780,
          "aa_end": null,
          "aa_length": 1806,
          "cds_start": 5340,
          "cds_end": null,
          "cds_length": 5421,
          "cdna_start": 5450,
          "cdna_end": null,
          "cdna_length": 6412,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5340A>T",
          "hgvs_p": "p.Pro1780Pro",
          "transcript": "ENST00000642365.2",
          "protein_id": "ENSP00000495459.2",
          "transcript_support_level": null,
          "aa_start": 1780,
          "aa_end": null,
          "aa_length": 1806,
          "cds_start": 5340,
          "cds_end": null,
          "cds_length": 5421,
          "cdna_start": 5411,
          "cdna_end": null,
          "cdna_length": 5574,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5337A>T",
          "hgvs_p": "p.Pro1779Pro",
          "transcript": "ENST00000646388.1",
          "protein_id": "ENSP00000495921.1",
          "transcript_support_level": null,
          "aa_start": 1779,
          "aa_end": null,
          "aa_length": 1805,
          "cds_start": 5337,
          "cds_end": null,
          "cds_length": 5418,
          "cdna_start": 5423,
          "cdna_end": null,
          "cdna_length": 5614,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5274A>T",
          "hgvs_p": "p.Pro1758Pro",
          "transcript": "NM_001114382.3",
          "protein_id": "NP_001107854.1",
          "transcript_support_level": null,
          "aa_start": 1758,
          "aa_end": null,
          "aa_length": 1784,
          "cds_start": 5274,
          "cds_end": null,
          "cds_length": 5355,
          "cdna_start": 5384,
          "cdna_end": null,
          "cdna_length": 6346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5271A>T",
          "hgvs_p": "p.Pro1757Pro",
          "transcript": "NM_001406664.1",
          "protein_id": "NP_001393593.1",
          "transcript_support_level": null,
          "aa_start": 1757,
          "aa_end": null,
          "aa_length": 1783,
          "cds_start": 5271,
          "cds_end": null,
          "cds_length": 5352,
          "cdna_start": 5381,
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          "cdna_length": 6343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5268A>T",
          "hgvs_p": "p.Pro1756Pro",
          "transcript": "ENST00000643946.1",
          "protein_id": "ENSP00000495927.1",
          "transcript_support_level": null,
          "aa_start": 1756,
          "aa_end": null,
          "aa_length": 1782,
          "cds_start": 5268,
          "cds_end": null,
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          "cdna_start": 5386,
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          "cdna_length": 6344,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5265A>T",
          "hgvs_p": "p.Pro1755Pro",
          "transcript": "NM_001406665.1",
          "protein_id": "NP_001393594.1",
          "transcript_support_level": null,
          "aa_start": 1755,
          "aa_end": null,
          "aa_length": 1781,
          "cds_start": 5265,
          "cds_end": null,
          "cds_length": 5346,
          "cdna_start": 5375,
          "cdna_end": null,
          "cdna_length": 6337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
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          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5262A>T",
          "hgvs_p": "p.Pro1754Pro",
          "transcript": "ENST00000644399.1",
          "protein_id": "ENSP00000493990.1",
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          "aa_length": 1780,
          "cds_start": 5262,
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          "cdna_start": 5264,
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          "cdna_length": 5445,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5235A>T",
          "hgvs_p": "p.Pro1745Pro",
          "transcript": "NM_001406667.1",
          "protein_id": "NP_001393596.1",
          "transcript_support_level": null,
          "aa_start": 1745,
          "aa_end": null,
          "aa_length": 1771,
          "cds_start": 5235,
          "cds_end": null,
          "cds_length": 5316,
          "cdna_start": 5345,
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          "cdna_length": 6307,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5232A>T",
          "hgvs_p": "p.Pro1744Pro",
          "transcript": "NM_001406668.1",
          "protein_id": "NP_001393597.1",
          "transcript_support_level": null,
          "aa_start": 1744,
          "aa_end": null,
          "aa_length": 1770,
          "cds_start": 5232,
          "cds_end": null,
          "cds_length": 5313,
          "cdna_start": 5342,
          "cdna_end": null,
          "cdna_length": 6304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5229A>T",
          "hgvs_p": "p.Pro1743Pro",
          "transcript": "ENST00000644329.1",
          "protein_id": "ENSP00000496611.1",
          "transcript_support_level": null,
          "aa_start": 1743,
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5214A>T",
          "hgvs_p": "p.Pro1738Pro",
          "transcript": "NM_021055.3",
          "protein_id": "NP_066399.2",
          "transcript_support_level": null,
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          "cds_start": 5214,
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          "cdna_start": 5324,
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          "cdna_length": 6286,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC2",
          "gene_hgnc_id": 12363,
          "hgvs_c": "c.5214A>T",
          "hgvs_p": "p.Pro1738Pro",
          "transcript": "ENST00000644043.1",
          "protein_id": "ENSP00000496262.1",
          "transcript_support_level": null,
          "aa_start": 1738,
          "aa_end": null,
          "aa_length": 1764,
          "cds_start": 5214,
          "cds_end": null,
          "cds_length": 5295,
          "cdna_start": 5268,
          "cdna_end": null,
          "cdna_length": 5457,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
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      "mitotip_prediction": null,
      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_000548.5",
          "gene_symbol": "TSC2",
          "hgnc_id": 12363,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.5343A>T",
          "hgvs_p": "p.Pro1781Pro"
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001009944.3",
          "gene_symbol": "PKD1",
          "hgnc_id": 9008,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.*1198T>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
}