← 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: 15-81305928-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=81305928&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 81305928,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000683961.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys",
"transcript": "NM_172217.5",
"protein_id": "NP_757366.2",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 9634,
"mane_select": "ENST00000683961.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys",
"transcript": "ENST00000683961.1",
"protein_id": "ENSP00000508085.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 9634,
"mane_select": "NM_172217.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3582T>A",
"hgvs_p": "p.Asn1194Lys",
"transcript": "ENST00000302987.10",
"protein_id": "ENSP00000302935.5",
"transcript_support_level": 1,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3582,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 9542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.1338T>A",
"hgvs_p": "p.Asn446Lys",
"transcript": "ENST00000394652.6",
"protein_id": "ENSP00000378147.2",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 631,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.*1420T>A",
"hgvs_p": null,
"transcript": "ENST00000558857.5",
"protein_id": "ENSP00000453131.1",
"transcript_support_level": 1,
"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": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.*1420T>A",
"hgvs_p": null,
"transcript": "ENST00000558857.5",
"protein_id": "ENSP00000453131.1",
"transcript_support_level": 1,
"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": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3594T>A",
"hgvs_p": "p.Asn1198Lys",
"transcript": "NM_001352686.2",
"protein_id": "NP_001339615.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3594,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 9744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3582T>A",
"hgvs_p": "p.Asn1194Lys",
"transcript": "NM_001438661.1",
"protein_id": "NP_001425590.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3582,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys",
"transcript": "NM_001172128.2",
"protein_id": "NP_001165599.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 9616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys",
"transcript": "ENST00000394660.6",
"protein_id": "ENSP00000378155.2",
"transcript_support_level": 2,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 9616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys",
"transcript": "ENST00000706926.1",
"protein_id": "ENSP00000516648.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 9744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.2931T>A",
"hgvs_p": "p.Asn977Lys",
"transcript": "NM_001352685.2",
"protein_id": "NP_001339614.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 9779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.1611T>A",
"hgvs_p": "p.Asn537Lys",
"transcript": "NM_001352684.2",
"protein_id": "NP_001339613.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 722,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 9823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.1338T>A",
"hgvs_p": "p.Asn446Lys",
"transcript": "NM_004513.6",
"protein_id": "NP_004504.3",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 631,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 7315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.1350T>A",
"hgvs_p": "p.Asn450Lys",
"transcript": "ENST00000558332.3",
"protein_id": "ENSP00000453214.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 610,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3633T>A",
"hgvs_p": "p.Asn1211Lys",
"transcript": "XM_047432447.1",
"protein_id": "XP_047288403.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1396,
"cds_start": 3633,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 9596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3633T>A",
"hgvs_p": "p.Asn1211Lys",
"transcript": "XM_047432448.1",
"protein_id": "XP_047288404.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3633,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 9593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3582T>A",
"hgvs_p": "p.Asn1194Lys",
"transcript": "XM_047432450.1",
"protein_id": "XP_047288406.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3582,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 9542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3633T>A",
"hgvs_p": "p.Asn1211Lys",
"transcript": "XM_047432451.1",
"protein_id": "XP_047288407.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1335,
"cds_start": 3633,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3633T>A",
"hgvs_p": "p.Asn1211Lys",
"transcript": "XM_047432452.1",
"protein_id": "XP_047288408.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3633,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys",
"transcript": "XM_047432453.1",
"protein_id": "XP_047288409.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 9430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.2931T>A",
"hgvs_p": "p.Asn977Lys",
"transcript": "XM_047432454.1",
"protein_id": "XP_047288410.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 8804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.1611T>A",
"hgvs_p": "p.Asn537Lys",
"transcript": "XM_047432456.1",
"protein_id": "XP_047288412.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 722,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.1611T>A",
"hgvs_p": "p.Asn537Lys",
"transcript": "XM_047432457.1",
"protein_id": "XP_047288413.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 721,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.*2618T>A",
"hgvs_p": null,
"transcript": "ENST00000360547.9",
"protein_id": "ENSP00000456972.1",
"transcript_support_level": 2,
"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": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.285T>A",
"hgvs_p": null,
"transcript": "ENST00000559342.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.183T>A",
"hgvs_p": null,
"transcript": "ENST00000559953.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.*2807T>A",
"hgvs_p": null,
"transcript": "ENST00000560115.5",
"protein_id": "ENSP00000454636.1",
"transcript_support_level": 2,
"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": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.3652T>A",
"hgvs_p": null,
"transcript": "NR_148035.2",
"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": 9470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.*2618T>A",
"hgvs_p": null,
"transcript": "ENST00000360547.9",
"protein_id": "ENSP00000456972.1",
"transcript_support_level": 2,
"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": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.*2807T>A",
"hgvs_p": null,
"transcript": "ENST00000560115.5",
"protein_id": "ENSP00000454636.1",
"transcript_support_level": 2,
"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": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271725",
"gene_hgnc_id": null,
"hgvs_c": "n.62-2299A>T",
"hgvs_p": null,
"transcript": "ENST00000607019.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"dbsnp": "rs11556218",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20955419540405273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.2382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.315,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000683961.1",
"gene_symbol": "IL16",
"hgnc_id": 5980,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Asn1147Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000607019.1",
"gene_symbol": "ENSG00000271725",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.62-2299A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}