← 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: 15-29708577-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29708577&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29708577,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330239.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4832C>G",
"hgvs_p": "p.Pro1611Arg",
"transcript": "NM_001330239.4",
"protein_id": "NP_001317168.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4832,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "ENST00000614355.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4832C>G",
"hgvs_p": "p.Pro1611Arg",
"transcript": "ENST00000614355.5",
"protein_id": "ENSP00000483470.2",
"transcript_support_level": 5,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4832,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": "NM_001330239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4832C>G",
"hgvs_p": "p.Pro1611Arg",
"transcript": "ENST00000346128.10",
"protein_id": "ENSP00000281537.7",
"transcript_support_level": 1,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1748,
"cds_start": 4832,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5307,
"cdna_end": null,
"cdna_length": 7950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4604C>G",
"hgvs_p": "p.Pro1535Arg",
"transcript": "ENST00000400011.6",
"protein_id": "ENSP00000382890.2",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4846,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5111C>G",
"hgvs_p": "p.Pro1704Arg",
"transcript": "NM_001301025.3",
"protein_id": "NP_001287954.2",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5321,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5111C>G",
"hgvs_p": "p.Pro1704Arg",
"transcript": "ENST00000356107.11",
"protein_id": "ENSP00000348416.7",
"transcript_support_level": 5,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1861,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 5187,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5111C>G",
"hgvs_p": "p.Pro1704Arg",
"transcript": "NM_001355012.2",
"protein_id": "NP_001341941.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1841,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 5321,
"cdna_end": null,
"cdna_length": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4844C>G",
"hgvs_p": "p.Pro1615Arg",
"transcript": "NM_001355013.1",
"protein_id": "NP_001341942.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1759,
"cds_start": 4844,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 4953,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4832C>G",
"hgvs_p": "p.Pro1611Arg",
"transcript": "NM_001355014.2",
"protein_id": "NP_001341943.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4832,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4832C>G",
"hgvs_p": "p.Pro1611Arg",
"transcript": "NM_003257.5",
"protein_id": "NP_003248.3",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1748,
"cds_start": 4832,
"cds_end": null,
"cds_length": 5247,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 7915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4604C>G",
"hgvs_p": "p.Pro1535Arg",
"transcript": "NM_001301026.2",
"protein_id": "NP_001287955.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 4777,
"cdna_end": null,
"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4592C>G",
"hgvs_p": "p.Pro1531Arg",
"transcript": "NM_001355015.2",
"protein_id": "NP_001341944.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5032,
"cdna_end": null,
"cdna_length": 7735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4592C>G",
"hgvs_p": "p.Pro1531Arg",
"transcript": "ENST00000677774.1",
"protein_id": "ENSP00000504775.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 4641,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4592C>G",
"hgvs_p": "p.Pro1531Arg",
"transcript": "NM_175610.4",
"protein_id": "NP_783297.2",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 5032,
"cdna_end": null,
"cdna_length": 7675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4592C>G",
"hgvs_p": "p.Pro1531Arg",
"transcript": "ENST00000545208.6",
"protein_id": "ENSP00000441202.2",
"transcript_support_level": 5,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.245C>G",
"hgvs_p": "p.Pro82Arg",
"transcript": "ENST00000400007.8",
"protein_id": "ENSP00000382887.4",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 226,
"cds_start": 245,
"cds_end": null,
"cds_length": 681,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162C>G",
"hgvs_p": "p.Pro1721Arg",
"transcript": "XM_017022521.2",
"protein_id": "XP_016878010.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1878,
"cds_start": 5162,
"cds_end": null,
"cds_length": 5637,
"cdna_start": 5372,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162C>G",
"hgvs_p": "p.Pro1721Arg",
"transcript": "XM_017022522.2",
"protein_id": "XP_016878011.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5162,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 5372,
"cdna_end": null,
"cdna_length": 8036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5162C>G",
"hgvs_p": "p.Pro1721Arg",
"transcript": "XM_017022523.2",
"protein_id": "XP_016878012.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1858,
"cds_start": 5162,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 5372,
"cdna_end": null,
"cdna_length": 8015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.5111C>G",
"hgvs_p": "p.Pro1704Arg",
"transcript": "XM_011521972.3",
"protein_id": "XP_011520274.2",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1848,
"cds_start": 5111,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 5321,
"cdna_end": null,
"cdna_length": 7985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4922C>G",
"hgvs_p": "p.Pro1641Arg",
"transcript": "XM_017022524.2",
"protein_id": "XP_016878013.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1798,
"cds_start": 4922,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 5132,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4895C>G",
"hgvs_p": "p.Pro1632Arg",
"transcript": "XM_017022525.2",
"protein_id": "XP_016878014.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 1789,
"cds_start": 4895,
"cds_end": null,
"cds_length": 5370,
"cdna_start": 5471,
"cdna_end": null,
"cdna_length": 8174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883C>G",
"hgvs_p": "p.Pro1628Arg",
"transcript": "XM_017022526.2",
"protein_id": "XP_016878015.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 5323,
"cdna_end": null,
"cdna_length": 8026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4877C>G",
"hgvs_p": "p.Pro1626Arg",
"transcript": "XM_017022527.2",
"protein_id": "XP_016878016.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4920,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4871C>G",
"hgvs_p": "p.Pro1624Arg",
"transcript": "XM_005254619.4",
"protein_id": "XP_005254676.2",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1781,
"cds_start": 4871,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 7784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4922C>G",
"hgvs_p": "p.Pro1641Arg",
"transcript": "XM_047432981.1",
"protein_id": "XP_047288937.1",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1778,
"cds_start": 4922,
"cds_end": null,
"cds_length": 5337,
"cdna_start": 5132,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4847C>G",
"hgvs_p": "p.Pro1616Arg",
"transcript": "XM_047432982.1",
"protein_id": "XP_047288938.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 1773,
"cds_start": 4847,
"cds_end": null,
"cds_length": 5322,
"cdna_start": 4942,
"cdna_end": null,
"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4883C>G",
"hgvs_p": "p.Pro1628Arg",
"transcript": "XM_047432983.1",
"protein_id": "XP_047288939.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1772,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5319,
"cdna_start": 5323,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4871C>G",
"hgvs_p": "p.Pro1624Arg",
"transcript": "XM_047432984.1",
"protein_id": "XP_047288940.1",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4871,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 7745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4871C>G",
"hgvs_p": "p.Pro1624Arg",
"transcript": "XM_005254620.4",
"protein_id": "XP_005254677.2",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1761,
"cds_start": 4871,
"cds_end": null,
"cds_length": 5286,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4844C>G",
"hgvs_p": "p.Pro1615Arg",
"transcript": "XM_047432985.1",
"protein_id": "XP_047288941.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1759,
"cds_start": 4844,
"cds_end": null,
"cds_length": 5280,
"cdna_start": 5420,
"cdna_end": null,
"cdna_length": 8084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643C>G",
"hgvs_p": "p.Pro1548Arg",
"transcript": "XM_047432986.1",
"protein_id": "XP_047288942.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5083,
"cdna_end": null,
"cdna_length": 7786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4604C>G",
"hgvs_p": "p.Pro1535Arg",
"transcript": "XM_047432987.1",
"protein_id": "XP_047288943.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5180,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643C>G",
"hgvs_p": "p.Pro1548Arg",
"transcript": "XM_047432988.1",
"protein_id": "XP_047288944.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5083,
"cdna_end": null,
"cdna_length": 7747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4643C>G",
"hgvs_p": "p.Pro1548Arg",
"transcript": "XM_047432989.1",
"protein_id": "XP_047288945.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5083,
"cdna_end": null,
"cdna_length": 7726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4592C>G",
"hgvs_p": "p.Pro1531Arg",
"transcript": "XM_047432990.1",
"protein_id": "XP_047288946.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 5032,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"hgvs_c": "c.4586C>G",
"hgvs_p": "p.Pro1529Arg",
"transcript": "XM_047432991.1",
"protein_id": "XP_047288947.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4586,
"cds_end": null,
"cds_length": 5001,
"cdna_start": 4629,
"cdna_end": null,
"cdna_length": 7272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TJP1",
"gene_hgnc_id": 11827,
"dbsnp": "rs1204207899",
"frequency_reference_population": 6.85682e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85682e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899953246116638,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.531,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2802,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330239.4",
"gene_symbol": "TJP1",
"hgnc_id": 11827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4832C>G",
"hgvs_p": "p.Pro1611Arg"
}
],
"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
}