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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: 16-78099784-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=78099784&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 78099784,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_016373.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "NM_016373.4",
          "protein_id": "NP_057457.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": 131,
          "cdna_end": null,
          "cdna_length": 2241,
          "mane_select": "ENST00000566780.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000566780.6",
          "protein_id": "ENSP00000457230.1",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": 131,
          "cdna_end": null,
          "cdna_length": 2241,
          "mane_select": "NM_016373.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000408984.7",
          "protein_id": "ENSP00000386161.3",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": 91,
          "cdna_end": null,
          "cdna_length": 1227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000402655.6",
          "protein_id": "ENSP00000384238.2",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 311,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 936,
          "cdna_start": 131,
          "cdna_end": null,
          "cdna_length": 1594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000406884.6",
          "protein_id": "ENSP00000384495.2",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": 131,
          "cdna_end": null,
          "cdna_length": 1701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000355860.7",
          "protein_id": "ENSP00000348119.3",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 189,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 570,
          "cdna_start": 106,
          "cdna_end": null,
          "cdna_length": 710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000627394.3",
          "protein_id": "ENSP00000485925.2",
          "transcript_support_level": 5,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 385,
          "cdna_end": null,
          "cdna_length": 2331,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000539474.6",
          "protein_id": "ENSP00000445210.2",
          "transcript_support_level": 5,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 131,
          "cdna_end": null,
          "cdna_length": 1670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "NM_130791.5",
          "protein_id": "NP_570607.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 189,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 570,
          "cdna_start": 131,
          "cdna_end": null,
          "cdna_length": 737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala",
          "transcript": "ENST00000569818.1",
          "protein_id": "ENSP00000454485.1",
          "transcript_support_level": 6,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 36,
          "cds_start": 6,
          "cds_end": null,
          "cds_length": 111,
          "cdna_start": 110,
          "cdna_end": null,
          "cdna_length": 525,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.50A>G",
          "hgvs_p": null,
          "transcript": "ENST00000561846.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 769,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.129A>G",
          "hgvs_p": null,
          "transcript": "ENST00000562214.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 654,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.51A>G",
          "hgvs_p": null,
          "transcript": "ENST00000565562.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 448,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.6A>G",
          "hgvs_p": null,
          "transcript": "ENST00000566662.5",
          "protein_id": "ENSP00000454331.1",
          "transcript_support_level": 4,
          "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": 571,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.6A>G",
          "hgvs_p": null,
          "transcript": "ENST00000569332.5",
          "protein_id": "ENSP00000454788.1",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.333A>G",
          "hgvs_p": null,
          "transcript": "ENST00000682609.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 6142,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.333A>G",
          "hgvs_p": null,
          "transcript": "ENST00000683286.1",
          "protein_id": null,
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          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4754,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.6A>G",
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          "transcript": "ENST00000683929.1",
          "protein_id": "ENSP00000507689.1",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.335A>G",
          "hgvs_p": null,
          "transcript": "ENST00000684070.1",
          "protein_id": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.333A>G",
          "hgvs_p": null,
          "transcript": "ENST00000684381.1",
          "protein_id": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2447,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.333A>G",
          "hgvs_p": null,
          "transcript": "ENST00000684452.1",
          "protein_id": null,
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          "aa_start": null,
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          "cdna_start": null,
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          "exon_rank": 1,
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          "exon_count": 9,
          "intron_rank": null,
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          "exon_count": 1,
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          "gene_symbol": "WWOX",
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          "hgvs_c": "n.131A>G",
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          "transcript": "NR_120435.2",
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "exon_rank": 1,
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          "exon_count": 6,
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          "gene_symbol": "WWOX",
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          "hgvs_c": "n.131A>G",
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          "cdna_length": 851,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
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          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "WWOX",
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          "hgvs_c": "c.-269A>G",
          "hgvs_p": null,
          "transcript": "NM_001291997.2",
          "protein_id": "NP_001278926.1",
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          "cdna_start": null,
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          "cdna_length": 2176,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "WWOX",
          "gene_hgnc_id": 12799,
          "hgvs_c": "n.-2A>G",
          "hgvs_p": null,
          "transcript": "ENST00000563358.5",
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          "transcript_support_level": 3,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 724,
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          "biotype": null,
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        }
      ],
      "gene_symbol": "WWOX",
      "gene_hgnc_id": 12799,
      "dbsnp": "rs1479057692",
      "frequency_reference_population": 0.0000065705613,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": 0.00000657056,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3799999952316284,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.38,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.092,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_016373.4",
          "gene_symbol": "WWOX",
          "hgnc_id": 12799,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.6A>G",
          "hgvs_p": "p.Ala2Ala"
        }
      ],
      "clinvar_disease": " 1,Autosomal recessive spinocerebellar ataxia 12,Developmental and epileptic encephalopathy",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 1",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}