← 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: 15-29701636-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29701636&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29701636,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330239.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5266G>T",
"hgvs_p": "p.Val1756Phe",
"transcript": "NM_001330239.4",
"protein_id": "NP_001317168.1",
"transcript_support_level": null,
"aa_start": 1756,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5266,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5706,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "ENST00000614355.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5266G>T",
"hgvs_p": "p.Val1756Phe",
"transcript": "ENST00000614355.5",
"protein_id": "ENSP00000483470.2",
"transcript_support_level": 5,
"aa_start": 1756,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5266,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5706,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "NM_001330239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5206G>T",
"hgvs_p": "p.Val1736Phe",
"transcript": "ENST00000346128.10",
"protein_id": "ENSP00000281537.7",
"transcript_support_level": 1,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1748,
"cds_start": 5206,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5681,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5038G>T",
"hgvs_p": "p.Val1680Phe",
"transcript": "ENST00000400011.6",
"protein_id": "ENSP00000382890.2",
"transcript_support_level": 1,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5280,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5545G>T",
"hgvs_p": "p.Val1849Phe",
"transcript": "NM_001301025.3",
"protein_id": "NP_001287954.2",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5545,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5755,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5545G>T",
"hgvs_p": "p.Val1849Phe",
"transcript": "ENST00000356107.11",
"protein_id": "ENSP00000348416.7",
"transcript_support_level": 5,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5545,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5621,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Val1829Phe",
"transcript": "NM_001355012.2",
"protein_id": "NP_001341941.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1841,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 5695,
"cdna_end": null,
"cdna_length": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5239G>T",
"hgvs_p": "p.Val1747Phe",
"transcript": "NM_001355013.1",
"protein_id": "NP_001341942.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 1759,
"cds_start": 5239,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 5348,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5227G>T",
"hgvs_p": "p.Val1743Phe",
"transcript": "NM_001355014.2",
"protein_id": "NP_001341943.1",
"transcript_support_level": null,
"aa_start": 1743,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5227,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5667,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5206G>T",
"hgvs_p": "p.Val1736Phe",
"transcript": "NM_003257.5",
"protein_id": "NP_003248.3",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1748,
"cds_start": 5206,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5646,
"cdna_end": null,
"cdna_length": 7915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5038G>T",
"hgvs_p": "p.Val1680Phe",
"transcript": "NM_001301026.2",
"protein_id": "NP_001287955.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5211,
"cdna_end": null,
"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5026G>T",
"hgvs_p": "p.Val1676Phe",
"transcript": "NM_001355015.2",
"protein_id": "NP_001341944.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1688,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5466,
"cdna_end": null,
"cdna_length": 7735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5026G>T",
"hgvs_p": "p.Val1676Phe",
"transcript": "ENST00000677774.1",
"protein_id": "ENSP00000504775.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1688,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5075,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4966G>T",
"hgvs_p": "p.Val1656Phe",
"transcript": "NM_175610.4",
"protein_id": "NP_783297.2",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4966,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 5406,
"cdna_end": null,
"cdna_length": 7675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4966G>T",
"hgvs_p": "p.Val1656Phe",
"transcript": "ENST00000545208.6",
"protein_id": "ENSP00000441202.2",
"transcript_support_level": 5,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4966,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Val214Phe",
"transcript": "ENST00000400007.8",
"protein_id": "ENSP00000382887.4",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 226,
"cds_start": 640,
"cds_end": null,
"cds_length": 681,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5596G>T",
"hgvs_p": "p.Val1866Phe",
"transcript": "XM_017022521.2",
"protein_id": "XP_016878010.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1878,
"cds_start": 5596,
"cds_end": null,
"cds_length": 5637,
"cdna_start": 5806,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5557G>T",
"hgvs_p": "p.Val1853Phe",
"transcript": "XM_017022522.2",
"protein_id": "XP_016878011.1",
"transcript_support_level": null,
"aa_start": 1853,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5557,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 5767,
"cdna_end": null,
"cdna_length": 8036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5536G>T",
"hgvs_p": "p.Val1846Phe",
"transcript": "XM_017022523.2",
"protein_id": "XP_016878012.1",
"transcript_support_level": null,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1858,
"cds_start": 5536,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 5746,
"cdna_end": null,
"cdna_length": 8015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5506G>T",
"hgvs_p": "p.Val1836Phe",
"transcript": "XM_011521972.3",
"protein_id": "XP_011520274.2",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5506,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 5716,
"cdna_end": null,
"cdna_length": 7985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5356G>T",
"hgvs_p": "p.Val1786Phe",
"transcript": "XM_017022524.2",
"protein_id": "XP_016878013.1",
"transcript_support_level": null,
"aa_start": 1786,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5356,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 5566,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5329G>T",
"hgvs_p": "p.Val1777Phe",
"transcript": "XM_017022525.2",
"protein_id": "XP_016878014.1",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 1789,
"cds_start": 5329,
"cds_end": null,
"cds_length": 5370,
"cdna_start": 5905,
"cdna_end": null,
"cdna_length": 8174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5317G>T",
"hgvs_p": "p.Val1773Phe",
"transcript": "XM_017022526.2",
"protein_id": "XP_016878015.1",
"transcript_support_level": null,
"aa_start": 1773,
"aa_end": null,
"aa_length": 1785,
"cds_start": 5317,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 5757,
"cdna_end": null,
"cdna_length": 8026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5311G>T",
"hgvs_p": "p.Val1771Phe",
"transcript": "XM_017022527.2",
"protein_id": "XP_016878016.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5311,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 5354,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5305G>T",
"hgvs_p": "p.Val1769Phe",
"transcript": "XM_005254619.4",
"protein_id": "XP_005254676.2",
"transcript_support_level": null,
"aa_start": 1769,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5305,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5515,
"cdna_end": null,
"cdna_length": 7784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5296G>T",
"hgvs_p": "p.Val1766Phe",
"transcript": "XM_047432981.1",
"protein_id": "XP_047288937.1",
"transcript_support_level": null,
"aa_start": 1766,
"aa_end": null,
"aa_length": 1778,
"cds_start": 5296,
"cds_end": null,
"cds_length": 5337,
"cdna_start": 5506,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5281G>T",
"hgvs_p": "p.Val1761Phe",
"transcript": "XM_047432982.1",
"protein_id": "XP_047288938.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 1773,
"cds_start": 5281,
"cds_end": null,
"cds_length": 5322,
"cdna_start": 5376,
"cdna_end": null,
"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5278G>T",
"hgvs_p": "p.Val1760Phe",
"transcript": "XM_047432983.1",
"protein_id": "XP_047288939.1",
"transcript_support_level": null,
"aa_start": 1760,
"aa_end": null,
"aa_length": 1772,
"cds_start": 5278,
"cds_end": null,
"cds_length": 5319,
"cdna_start": 5718,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5266G>T",
"hgvs_p": "p.Val1756Phe",
"transcript": "XM_047432984.1",
"protein_id": "XP_047288940.1",
"transcript_support_level": null,
"aa_start": 1756,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5266,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5476,
"cdna_end": null,
"cdna_length": 7745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5245G>T",
"hgvs_p": "p.Val1749Phe",
"transcript": "XM_005254620.4",
"protein_id": "XP_005254677.2",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1761,
"cds_start": 5245,
"cds_end": null,
"cds_length": 5286,
"cdna_start": 5455,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5239G>T",
"hgvs_p": "p.Val1747Phe",
"transcript": "XM_047432985.1",
"protein_id": "XP_047288941.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 1759,
"cds_start": 5239,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 5815,
"cdna_end": null,
"cdna_length": 8084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5077G>T",
"hgvs_p": "p.Val1693Phe",
"transcript": "XM_047432986.1",
"protein_id": "XP_047288942.1",
"transcript_support_level": null,
"aa_start": 1693,
"aa_end": null,
"aa_length": 1705,
"cds_start": 5077,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5517,
"cdna_end": null,
"cdna_length": 7786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5038G>T",
"hgvs_p": "p.Val1680Phe",
"transcript": "XM_047432987.1",
"protein_id": "XP_047288943.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5614,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5038G>T",
"hgvs_p": "p.Val1680Phe",
"transcript": "XM_047432988.1",
"protein_id": "XP_047288944.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5478,
"cdna_end": null,
"cdna_length": 7747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5017G>T",
"hgvs_p": "p.Val1673Phe",
"transcript": "XM_047432989.1",
"protein_id": "XP_047288945.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5017,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5457,
"cdna_end": null,
"cdna_length": 7726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4987G>T",
"hgvs_p": "p.Val1663Phe",
"transcript": "XM_047432990.1",
"protein_id": "XP_047288946.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 5427,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4960G>T",
"hgvs_p": "p.Val1654Phe",
"transcript": "XM_047432991.1",
"protein_id": "XP_047288947.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4960,
"cds_end": null,
"cds_length": 5001,
"cdna_start": 5003,
"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.327-3910C>A",
"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": "rs369915729",
"frequency_reference_population": 0.000076204495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 123,
"gnomad_exomes_af": 0.0000786693,
"gnomad_genomes_af": 0.000052541,
"gnomad_exomes_ac": 115,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2576603591442108,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.9195,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.138,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001330239.4",
"gene_symbol": "TJP1",
"hgnc_id": 11827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5266G>T",
"hgvs_p": "p.Val1756Phe"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000841149.1",
"gene_symbol": "LCIIAR",
"hgnc_id": 56346,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327-3910C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}