← Back to variant description

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: 15-29704280-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29704280&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 29704280,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001330239.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5094G>A",
          "hgvs_p": "p.Val1698Val",
          "transcript": "NM_001330239.4",
          "protein_id": "NP_001317168.1",
          "transcript_support_level": null,
          "aa_start": 1698,
          "aa_end": null,
          "aa_length": 1768,
          "cds_start": 5094,
          "cds_end": null,
          "cds_length": 5307,
          "cdna_start": 5534,
          "cdna_end": null,
          "cdna_length": 7190,
          "mane_select": "ENST00000614355.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5094G>A",
          "hgvs_p": "p.Val1698Val",
          "transcript": "ENST00000614355.5",
          "protein_id": "ENSP00000483470.2",
          "transcript_support_level": 5,
          "aa_start": 1698,
          "aa_end": null,
          "aa_length": 1768,
          "cds_start": 5094,
          "cds_end": null,
          "cds_length": 5307,
          "cdna_start": 5534,
          "cdna_end": null,
          "cdna_length": 7190,
          "mane_select": "NM_001330239.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5094G>A",
          "hgvs_p": "p.Val1698Val",
          "transcript": "ENST00000346128.10",
          "protein_id": "ENSP00000281537.7",
          "transcript_support_level": 1,
          "aa_start": 1698,
          "aa_end": null,
          "aa_length": 1748,
          "cds_start": 5094,
          "cds_end": null,
          "cds_length": 5247,
          "cdna_start": 5569,
          "cdna_end": null,
          "cdna_length": 7950,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4866G>A",
          "hgvs_p": "p.Val1622Val",
          "transcript": "ENST00000400011.6",
          "protein_id": "ENSP00000382890.2",
          "transcript_support_level": 1,
          "aa_start": 1622,
          "aa_end": null,
          "aa_length": 1692,
          "cds_start": 4866,
          "cds_end": null,
          "cds_length": 5079,
          "cdna_start": 5108,
          "cdna_end": null,
          "cdna_length": 6764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5373G>A",
          "hgvs_p": "p.Val1791Val",
          "transcript": "NM_001301025.3",
          "protein_id": "NP_001287954.2",
          "transcript_support_level": null,
          "aa_start": 1791,
          "aa_end": null,
          "aa_length": 1861,
          "cds_start": 5373,
          "cds_end": null,
          "cds_length": 5586,
          "cdna_start": 5583,
          "cdna_end": null,
          "cdna_length": 8024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5373G>A",
          "hgvs_p": "p.Val1791Val",
          "transcript": "ENST00000356107.11",
          "protein_id": "ENSP00000348416.7",
          "transcript_support_level": 5,
          "aa_start": 1791,
          "aa_end": null,
          "aa_length": 1861,
          "cds_start": 5373,
          "cds_end": null,
          "cds_length": 5586,
          "cdna_start": 5449,
          "cdna_end": null,
          "cdna_length": 7022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5373G>A",
          "hgvs_p": "p.Val1791Val",
          "transcript": "NM_001355012.2",
          "protein_id": "NP_001341941.1",
          "transcript_support_level": null,
          "aa_start": 1791,
          "aa_end": null,
          "aa_length": 1841,
          "cds_start": 5373,
          "cds_end": null,
          "cds_length": 5526,
          "cdna_start": 5583,
          "cdna_end": null,
          "cdna_length": 7964,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5106G>A",
          "hgvs_p": "p.Val1702Val",
          "transcript": "NM_001355013.1",
          "protein_id": "NP_001341942.1",
          "transcript_support_level": null,
          "aa_start": 1702,
          "aa_end": null,
          "aa_length": 1759,
          "cds_start": 5106,
          "cds_end": null,
          "cds_length": 5280,
          "cdna_start": 5215,
          "cdna_end": null,
          "cdna_length": 7617,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5094G>A",
          "hgvs_p": "p.Val1698Val",
          "transcript": "NM_001355014.2",
          "protein_id": "NP_001341943.1",
          "transcript_support_level": null,
          "aa_start": 1698,
          "aa_end": null,
          "aa_length": 1755,
          "cds_start": 5094,
          "cds_end": null,
          "cds_length": 5268,
          "cdna_start": 5534,
          "cdna_end": null,
          "cdna_length": 7936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5094G>A",
          "hgvs_p": "p.Val1698Val",
          "transcript": "NM_003257.5",
          "protein_id": "NP_003248.3",
          "transcript_support_level": null,
          "aa_start": 1698,
          "aa_end": null,
          "aa_length": 1748,
          "cds_start": 5094,
          "cds_end": null,
          "cds_length": 5247,
          "cdna_start": 5534,
          "cdna_end": null,
          "cdna_length": 7915,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4866G>A",
          "hgvs_p": "p.Val1622Val",
          "transcript": "NM_001301026.2",
          "protein_id": "NP_001287955.1",
          "transcript_support_level": null,
          "aa_start": 1622,
          "aa_end": null,
          "aa_length": 1692,
          "cds_start": 4866,
          "cds_end": null,
          "cds_length": 5079,
          "cdna_start": 5039,
          "cdna_end": null,
          "cdna_length": 7480,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4854G>A",
          "hgvs_p": "p.Val1618Val",
          "transcript": "NM_001355015.2",
          "protein_id": "NP_001341944.1",
          "transcript_support_level": null,
          "aa_start": 1618,
          "aa_end": null,
          "aa_length": 1688,
          "cds_start": 4854,
          "cds_end": null,
          "cds_length": 5067,
          "cdna_start": 5294,
          "cdna_end": null,
          "cdna_length": 7735,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4854G>A",
          "hgvs_p": "p.Val1618Val",
          "transcript": "ENST00000677774.1",
          "protein_id": "ENSP00000504775.1",
          "transcript_support_level": null,
          "aa_start": 1618,
          "aa_end": null,
          "aa_length": 1688,
          "cds_start": 4854,
          "cds_end": null,
          "cds_length": 5067,
          "cdna_start": 4903,
          "cdna_end": null,
          "cdna_length": 5938,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4854G>A",
          "hgvs_p": "p.Val1618Val",
          "transcript": "NM_175610.4",
          "protein_id": "NP_783297.2",
          "transcript_support_level": null,
          "aa_start": 1618,
          "aa_end": null,
          "aa_length": 1668,
          "cds_start": 4854,
          "cds_end": null,
          "cds_length": 5007,
          "cdna_start": 5294,
          "cdna_end": null,
          "cdna_length": 7675,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4854G>A",
          "hgvs_p": "p.Val1618Val",
          "transcript": "ENST00000545208.6",
          "protein_id": "ENSP00000441202.2",
          "transcript_support_level": 5,
          "aa_start": 1618,
          "aa_end": null,
          "aa_length": 1668,
          "cds_start": 4854,
          "cds_end": null,
          "cds_length": 5007,
          "cdna_start": 4854,
          "cdna_end": null,
          "cdna_length": 5007,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.507G>A",
          "hgvs_p": "p.Val169Val",
          "transcript": "ENST00000400007.8",
          "protein_id": "ENSP00000382887.4",
          "transcript_support_level": 2,
          "aa_start": 169,
          "aa_end": null,
          "aa_length": 226,
          "cds_start": 507,
          "cds_end": null,
          "cds_length": 681,
          "cdna_start": 508,
          "cdna_end": null,
          "cdna_length": 1032,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5424G>A",
          "hgvs_p": "p.Val1808Val",
          "transcript": "XM_017022521.2",
          "protein_id": "XP_016878010.1",
          "transcript_support_level": null,
          "aa_start": 1808,
          "aa_end": null,
          "aa_length": 1878,
          "cds_start": 5424,
          "cds_end": null,
          "cds_length": 5637,
          "cdna_start": 5634,
          "cdna_end": null,
          "cdna_length": 8075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5424G>A",
          "hgvs_p": "p.Val1808Val",
          "transcript": "XM_017022522.2",
          "protein_id": "XP_016878011.1",
          "transcript_support_level": null,
          "aa_start": 1808,
          "aa_end": null,
          "aa_length": 1865,
          "cds_start": 5424,
          "cds_end": null,
          "cds_length": 5598,
          "cdna_start": 5634,
          "cdna_end": null,
          "cdna_length": 8036,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5424G>A",
          "hgvs_p": "p.Val1808Val",
          "transcript": "XM_017022523.2",
          "protein_id": "XP_016878012.1",
          "transcript_support_level": null,
          "aa_start": 1808,
          "aa_end": null,
          "aa_length": 1858,
          "cds_start": 5424,
          "cds_end": null,
          "cds_length": 5577,
          "cdna_start": 5634,
          "cdna_end": null,
          "cdna_length": 8015,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5373G>A",
          "hgvs_p": "p.Val1791Val",
          "transcript": "XM_011521972.3",
          "protein_id": "XP_011520274.2",
          "transcript_support_level": null,
          "aa_start": 1791,
          "aa_end": null,
          "aa_length": 1848,
          "cds_start": 5373,
          "cds_end": null,
          "cds_length": 5547,
          "cdna_start": 5583,
          "cdna_end": null,
          "cdna_length": 7985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5184G>A",
          "hgvs_p": "p.Val1728Val",
          "transcript": "XM_017022524.2",
          "protein_id": "XP_016878013.1",
          "transcript_support_level": null,
          "aa_start": 1728,
          "aa_end": null,
          "aa_length": 1798,
          "cds_start": 5184,
          "cds_end": null,
          "cds_length": 5397,
          "cdna_start": 5394,
          "cdna_end": null,
          "cdna_length": 7835,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5157G>A",
          "hgvs_p": "p.Val1719Val",
          "transcript": "XM_017022525.2",
          "protein_id": "XP_016878014.1",
          "transcript_support_level": null,
          "aa_start": 1719,
          "aa_end": null,
          "aa_length": 1789,
          "cds_start": 5157,
          "cds_end": null,
          "cds_length": 5370,
          "cdna_start": 5733,
          "cdna_end": null,
          "cdna_length": 8174,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5145G>A",
          "hgvs_p": "p.Val1715Val",
          "transcript": "XM_017022526.2",
          "protein_id": "XP_016878015.1",
          "transcript_support_level": null,
          "aa_start": 1715,
          "aa_end": null,
          "aa_length": 1785,
          "cds_start": 5145,
          "cds_end": null,
          "cds_length": 5358,
          "cdna_start": 5585,
          "cdna_end": null,
          "cdna_length": 8026,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5139G>A",
          "hgvs_p": "p.Val1713Val",
          "transcript": "XM_017022527.2",
          "protein_id": "XP_016878016.1",
          "transcript_support_level": null,
          "aa_start": 1713,
          "aa_end": null,
          "aa_length": 1783,
          "cds_start": 5139,
          "cds_end": null,
          "cds_length": 5352,
          "cdna_start": 5182,
          "cdna_end": null,
          "cdna_length": 7623,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5133G>A",
          "hgvs_p": "p.Val1711Val",
          "transcript": "XM_005254619.4",
          "protein_id": "XP_005254676.2",
          "transcript_support_level": null,
          "aa_start": 1711,
          "aa_end": null,
          "aa_length": 1781,
          "cds_start": 5133,
          "cds_end": null,
          "cds_length": 5346,
          "cdna_start": 5343,
          "cdna_end": null,
          "cdna_length": 7784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5184G>A",
          "hgvs_p": "p.Val1728Val",
          "transcript": "XM_047432981.1",
          "protein_id": "XP_047288937.1",
          "transcript_support_level": null,
          "aa_start": 1728,
          "aa_end": null,
          "aa_length": 1778,
          "cds_start": 5184,
          "cds_end": null,
          "cds_length": 5337,
          "cdna_start": 5394,
          "cdna_end": null,
          "cdna_length": 7775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5109G>A",
          "hgvs_p": "p.Val1703Val",
          "transcript": "XM_047432982.1",
          "protein_id": "XP_047288938.1",
          "transcript_support_level": null,
          "aa_start": 1703,
          "aa_end": null,
          "aa_length": 1773,
          "cds_start": 5109,
          "cds_end": null,
          "cds_length": 5322,
          "cdna_start": 5204,
          "cdna_end": null,
          "cdna_length": 7645,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5145G>A",
          "hgvs_p": "p.Val1715Val",
          "transcript": "XM_047432983.1",
          "protein_id": "XP_047288939.1",
          "transcript_support_level": null,
          "aa_start": 1715,
          "aa_end": null,
          "aa_length": 1772,
          "cds_start": 5145,
          "cds_end": null,
          "cds_length": 5319,
          "cdna_start": 5585,
          "cdna_end": null,
          "cdna_length": 7987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5133G>A",
          "hgvs_p": "p.Val1711Val",
          "transcript": "XM_047432984.1",
          "protein_id": "XP_047288940.1",
          "transcript_support_level": null,
          "aa_start": 1711,
          "aa_end": null,
          "aa_length": 1768,
          "cds_start": 5133,
          "cds_end": null,
          "cds_length": 5307,
          "cdna_start": 5343,
          "cdna_end": null,
          "cdna_length": 7745,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5133G>A",
          "hgvs_p": "p.Val1711Val",
          "transcript": "XM_005254620.4",
          "protein_id": "XP_005254677.2",
          "transcript_support_level": null,
          "aa_start": 1711,
          "aa_end": null,
          "aa_length": 1761,
          "cds_start": 5133,
          "cds_end": null,
          "cds_length": 5286,
          "cdna_start": 5343,
          "cdna_end": null,
          "cdna_length": 7724,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.5106G>A",
          "hgvs_p": "p.Val1702Val",
          "transcript": "XM_047432985.1",
          "protein_id": "XP_047288941.1",
          "transcript_support_level": null,
          "aa_start": 1702,
          "aa_end": null,
          "aa_length": 1759,
          "cds_start": 5106,
          "cds_end": null,
          "cds_length": 5280,
          "cdna_start": 5682,
          "cdna_end": null,
          "cdna_length": 8084,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4905G>A",
          "hgvs_p": "p.Val1635Val",
          "transcript": "XM_047432986.1",
          "protein_id": "XP_047288942.1",
          "transcript_support_level": null,
          "aa_start": 1635,
          "aa_end": null,
          "aa_length": 1705,
          "cds_start": 4905,
          "cds_end": null,
          "cds_length": 5118,
          "cdna_start": 5345,
          "cdna_end": null,
          "cdna_length": 7786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4866G>A",
          "hgvs_p": "p.Val1622Val",
          "transcript": "XM_047432987.1",
          "protein_id": "XP_047288943.1",
          "transcript_support_level": null,
          "aa_start": 1622,
          "aa_end": null,
          "aa_length": 1692,
          "cds_start": 4866,
          "cds_end": null,
          "cds_length": 5079,
          "cdna_start": 5442,
          "cdna_end": null,
          "cdna_length": 7883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4905G>A",
          "hgvs_p": "p.Val1635Val",
          "transcript": "XM_047432988.1",
          "protein_id": "XP_047288944.1",
          "transcript_support_level": null,
          "aa_start": 1635,
          "aa_end": null,
          "aa_length": 1692,
          "cds_start": 4905,
          "cds_end": null,
          "cds_length": 5079,
          "cdna_start": 5345,
          "cdna_end": null,
          "cdna_length": 7747,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4905G>A",
          "hgvs_p": "p.Val1635Val",
          "transcript": "XM_047432989.1",
          "protein_id": "XP_047288945.1",
          "transcript_support_level": null,
          "aa_start": 1635,
          "aa_end": null,
          "aa_length": 1685,
          "cds_start": 4905,
          "cds_end": null,
          "cds_length": 5058,
          "cdna_start": 5345,
          "cdna_end": null,
          "cdna_length": 7726,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4854G>A",
          "hgvs_p": "p.Val1618Val",
          "transcript": "XM_047432990.1",
          "protein_id": "XP_047288946.1",
          "transcript_support_level": null,
          "aa_start": 1618,
          "aa_end": null,
          "aa_length": 1675,
          "cds_start": 4854,
          "cds_end": null,
          "cds_length": 5028,
          "cdna_start": 5294,
          "cdna_end": null,
          "cdna_length": 7696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.4848G>A",
          "hgvs_p": "p.Val1616Val",
          "transcript": "XM_047432991.1",
          "protein_id": "XP_047288947.1",
          "transcript_support_level": null,
          "aa_start": 1616,
          "aa_end": null,
          "aa_length": 1666,
          "cds_start": 4848,
          "cds_end": null,
          "cds_length": 5001,
          "cdna_start": 4891,
          "cdna_end": null,
          "cdna_length": 7272,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LCIIAR",
          "gene_hgnc_id": 56346,
          "hgvs_c": "n.327-1266C>T",
          "hgvs_p": null,
          "transcript": "ENST00000841149.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TJP1",
      "gene_hgnc_id": 11827,
      "dbsnp": "rs575536449",
      "frequency_reference_population": 0.000036293233,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 58,
      "gnomad_exomes_af": 0.0000352753,
      "gnomad_genomes_af": 0.0000459553,
      "gnomad_exomes_ac": 51,
      "gnomad_genomes_ac": 7,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3199999928474426,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.32,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.671,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001330239.4",
          "gene_symbol": "TJP1",
          "hgnc_id": 11827,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.5094G>A",
          "hgvs_p": "p.Val1698Val"
        },
        {
          "score": -3,
          "benign_score": 3,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000841149.1",
          "gene_symbol": "LCIIAR",
          "hgnc_id": 56346,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.327-1266C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "TJP1-related disorder",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "TJP1-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}