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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: 6-82191142-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=82191142&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 82191142,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015525.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3506A>T",
"hgvs_p": "p.Asn1169Ile",
"transcript": "NM_015525.4",
"protein_id": "NP_056340.2",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3506,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306270.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015525.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3506A>T",
"hgvs_p": "p.Asn1169Ile",
"transcript": "ENST00000306270.12",
"protein_id": "ENSP00000305721.7",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3506,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015525.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306270.12"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3461A>T",
"hgvs_p": "p.Asn1154Ile",
"transcript": "ENST00000510291.5",
"protein_id": "ENSP00000426405.1",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3461,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510291.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.2903A>T",
"hgvs_p": "p.Asn968Ile",
"transcript": "ENST00000503631.5",
"protein_id": "ENSP00000422762.1",
"transcript_support_level": 1,
"aa_start": 968,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "n.*2817A>T",
"hgvs_p": null,
"transcript": "ENST00000503400.5",
"protein_id": "ENSP00000422136.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "n.3552A>T",
"hgvs_p": null,
"transcript": "ENST00000505222.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505222.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "n.*2817A>T",
"hgvs_p": null,
"transcript": "ENST00000503400.5",
"protein_id": "ENSP00000422136.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503400.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3506A>T",
"hgvs_p": "p.Asn1169Ile",
"transcript": "ENST00000870344.1",
"protein_id": "ENSP00000540403.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3506,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870344.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3506A>T",
"hgvs_p": "p.Asn1169Ile",
"transcript": "ENST00000870345.1",
"protein_id": "ENSP00000540404.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3506,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870345.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3461A>T",
"hgvs_p": "p.Asn1154Ile",
"transcript": "ENST00000870342.1",
"protein_id": "ENSP00000540401.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3461,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870342.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3461A>T",
"hgvs_p": "p.Asn1154Ile",
"transcript": "ENST00000945775.1",
"protein_id": "ENSP00000615834.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3461,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945775.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3575A>T",
"hgvs_p": "p.Asn1192Ile",
"transcript": "ENST00000928506.1",
"protein_id": "ENSP00000598565.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3575,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928506.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3506A>T",
"hgvs_p": "p.Asn1169Ile",
"transcript": "ENST00000928505.1",
"protein_id": "ENSP00000598564.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3506,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928505.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3500A>T",
"hgvs_p": "p.Asn1167Ile",
"transcript": "ENST00000928503.1",
"protein_id": "ENSP00000598562.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3500,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928503.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3491A>T",
"hgvs_p": "p.Asn1164Ile",
"transcript": "ENST00000945772.1",
"protein_id": "ENSP00000615831.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3491,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945772.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3461A>T",
"hgvs_p": "p.Asn1154Ile",
"transcript": "NM_001300906.2",
"protein_id": "NP_001287835.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3461,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300906.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3452A>T",
"hgvs_p": "p.Asn1151Ile",
"transcript": "ENST00000928502.1",
"protein_id": "ENSP00000598561.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1335,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928502.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3335A>T",
"hgvs_p": "p.Asn1112Ile",
"transcript": "ENST00000928504.1",
"protein_id": "ENSP00000598563.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3335,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928504.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3284A>T",
"hgvs_p": "p.Asn1095Ile",
"transcript": "ENST00000945774.1",
"protein_id": "ENSP00000615833.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945774.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.2903A>T",
"hgvs_p": "p.Asn968Ile",
"transcript": "ENST00000945770.1",
"protein_id": "ENSP00000615829.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1193,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945770.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.2903A>T",
"hgvs_p": "p.Asn968Ile",
"transcript": "ENST00000610980.4",
"protein_id": "ENSP00000478891.1",
"transcript_support_level": 5,
"aa_start": 968,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610980.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "IBTK",
"gene_hgnc_id": 17853,
"hgvs_c": "c.3431+645A>T",
"hgvs_p": null,
"transcript": "ENST00000945771.1",
"protein_id": "ENSP00000615830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1305,
"cds_start": null,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
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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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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "IBTK",
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"biotype": "retained_intron",
"feature": "ENST00000369751.2"
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],
"gene_symbol": "IBTK",
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"dbsnp": "rs193921029",
"frequency_reference_population": 0.000006572375,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09229534864425659,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.044,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015525.4",
"gene_symbol": "IBTK",
"hgnc_id": 17853,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3506A>T",
"hgvs_p": "p.Asn1169Ile"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}