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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-102905400-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102905400&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102905400,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000392745.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "NM_145725.3",
"protein_id": "NP_663777.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 7806,
"mane_select": "ENST00000392745.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "ENST00000392745.8",
"protein_id": "ENSP00000376500.3",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 7806,
"mane_select": "NM_145725.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "ENST00000560371.5",
"protein_id": "ENSP00000454207.1",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 7640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1248C>T",
"hgvs_p": "p.Tyr416Tyr",
"transcript": "ENST00000351691.10",
"protein_id": "ENSP00000332468.5",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 543,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "NM_003300.4",
"protein_id": "NP_003291.2",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "ENST00000699894.1",
"protein_id": "ENSP00000514678.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 8028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1248C>T",
"hgvs_p": "p.Tyr416Tyr",
"transcript": "NM_145726.3",
"protein_id": "NP_663778.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 543,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 7731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1248C>T",
"hgvs_p": "p.Tyr416Tyr",
"transcript": "ENST00000699893.1",
"protein_id": "ENSP00000514677.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 543,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Tyr414Tyr",
"transcript": "NM_001385143.1",
"protein_id": "NP_001372072.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 541,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 7725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1182C>T",
"hgvs_p": "p.Tyr394Tyr",
"transcript": "NM_001385142.1",
"protein_id": "NP_001372071.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 521,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 7665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1074C>T",
"hgvs_p": "p.Tyr358Tyr",
"transcript": "NM_001199427.2",
"protein_id": "NP_001186356.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 485,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1074C>T",
"hgvs_p": "p.Tyr358Tyr",
"transcript": "ENST00000539721.5",
"protein_id": "ENSP00000445998.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 485,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Tyr269Tyr",
"transcript": "ENST00000559734.1",
"protein_id": "ENSP00000453032.1",
"transcript_support_level": 3,
"aa_start": 269,
"aa_end": null,
"aa_length": 289,
"cds_start": 807,
"cds_end": null,
"cds_length": 870,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "XM_017021617.2",
"protein_id": "XP_016877106.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
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"cdna_start": 2166,
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"cdna_length": 8266,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "XM_017021618.2",
"protein_id": "XP_016877107.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 9429,
"cdna_end": null,
"cdna_length": 15529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr",
"transcript": "XM_047431738.1",
"protein_id": "XP_047287694.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 568,
"cds_start": 1323,
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"cdna_start": 1877,
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"cdna_length": 7977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1248C>T",
"hgvs_p": "p.Tyr416Tyr",
"transcript": "XM_017021619.2",
"protein_id": "XP_016877108.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 543,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 9354,
"cdna_end": null,
"cdna_length": 15454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1248C>T",
"hgvs_p": "p.Tyr416Tyr",
"transcript": "XM_047431739.1",
"protein_id": "XP_047287695.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 543,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1167C>T",
"hgvs_p": "p.Tyr389Tyr",
"transcript": "XM_011537116.4",
"protein_id": "XP_011535418.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
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"cdna_start": 1550,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1167C>T",
"hgvs_p": "p.Tyr389Tyr",
"transcript": "XM_047431740.1",
"protein_id": "XP_047287696.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1167,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Tyr385Tyr",
"transcript": "XM_011537117.4",
"protein_id": "XP_011535419.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 512,
"cds_start": 1155,
"cds_end": null,
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"cdna_start": 1538,
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"cdna_length": 7638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
"gene_hgnc_id": 12033,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Tyr385Tyr",
"transcript": "XM_047431741.1",
"protein_id": "XP_047287697.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 512,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 9261,
"cdna_end": null,
"cdna_length": 15361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3",
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},
{
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},
{
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],
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},
{
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],
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},
{
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],
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}
],
"gene_symbol": "TRAF3",
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"dbsnp": "rs1159024547",
"frequency_reference_population": 0.000004104265,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000410426,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.608,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000392745.8",
"gene_symbol": "TRAF3",
"hgnc_id": 12033,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Tyr441Tyr"
}
],
"clinvar_disease": " 3, susceptibility to,Herpes simplex encephalitis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Herpes simplex encephalitis, susceptibility to, 3",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}