← 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: 10-5963764-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5963764&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5963764,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256765.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ser121Gly",
"transcript": "NM_002189.4",
"protein_id": "NP_002180.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 267,
"cds_start": 361,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379977.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002189.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ser121Gly",
"transcript": "ENST00000379977.8",
"protein_id": "ENSP00000369312.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 267,
"cds_start": 361,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002189.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379977.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Ser207Gly",
"transcript": "ENST00000397248.6",
"protein_id": "ENSP00000380421.3",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 353,
"cds_start": 619,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397248.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ser172Gly",
"transcript": "ENST00000622442.4",
"protein_id": "ENSP00000480949.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 346,
"cds_start": 514,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622442.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ser172Gly",
"transcript": "ENST00000620345.4",
"protein_id": "ENSP00000479839.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 331,
"cds_start": 514,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620345.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ser172Gly",
"transcript": "ENST00000397251.7",
"protein_id": "ENSP00000380423.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 308,
"cds_start": 514,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397251.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ser172Gly",
"transcript": "ENST00000620865.4",
"protein_id": "ENSP00000478525.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 305,
"cds_start": 514,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620865.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ser85Gly",
"transcript": "ENST00000525219.6",
"protein_id": "ENSP00000431529.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 231,
"cds_start": 253,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525219.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "n.542A>G",
"hgvs_p": null,
"transcript": "ENST00000534292.5",
"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": "pseudogene",
"feature": "ENST00000534292.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "n.404-3197A>G",
"hgvs_p": null,
"transcript": "ENST00000379974.1",
"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": "pseudogene",
"feature": "ENST00000379974.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Ser207Gly",
"transcript": "NM_001256765.1",
"protein_id": "NP_001243694.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 353,
"cds_start": 619,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256765.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "ENST00000851428.1",
"protein_id": "ENSP00000521487.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 266,
"cds_start": 358,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851428.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ser121Gly",
"transcript": "ENST00000397255.7",
"protein_id": "ENSP00000380426.3",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 252,
"cds_start": 361,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397255.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ser172Gly",
"transcript": "ENST00000962787.1",
"protein_id": "ENSP00000632846.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 240,
"cds_start": 514,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962787.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ser121Gly",
"transcript": "ENST00000851421.1",
"protein_id": "ENSP00000521479.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 234,
"cds_start": 361,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851421.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ser85Gly",
"transcript": "NM_001243539.2",
"protein_id": "NP_001230468.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 231,
"cds_start": 253,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243539.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ser85Gly",
"transcript": "NM_001351096.1",
"protein_id": "NP_001338025.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 216,
"cds_start": 253,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351096.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.166A>G",
"hgvs_p": "p.Ser56Gly",
"transcript": "ENST00000851425.1",
"protein_id": "ENSP00000521484.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 202,
"cds_start": 166,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851425.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ser121Gly",
"transcript": "ENST00000962788.1",
"protein_id": "ENSP00000632847.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 189,
"cds_start": 361,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962788.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.166A>G",
"hgvs_p": "p.Ser56Gly",
"transcript": "ENST00000962789.1",
"protein_id": "ENSP00000632848.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 169,
"cds_start": 166,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962789.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Ser23Gly",
"transcript": "ENST00000447291.5",
"protein_id": "ENSP00000405128.1",
"transcript_support_level": 3,
"aa_start": 23,
"aa_end": null,
"aa_length": 154,
"cds_start": 67,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447291.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ser84Gly",
"transcript": "ENST00000453922.1",
"protein_id": "ENSP00000405107.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 147,
"cds_start": 250,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453922.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "XM_011519461.3",
"protein_id": "XP_011517763.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 434,
"cds_start": 688,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519461.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Ser207Gly",
"transcript": "XM_011519462.3",
"protein_id": "XP_011517764.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 411,
"cds_start": 619,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519462.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ser179Gly",
"transcript": "XM_011519464.3",
"protein_id": "XP_011517766.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 383,
"cds_start": 535,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519464.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "XM_011519465.2",
"protein_id": "XP_011517767.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 376,
"cds_start": 688,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519465.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "XM_011519466.3",
"protein_id": "XP_011517768.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 361,
"cds_start": 688,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519466.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ser156Gly",
"transcript": "XM_011519467.3",
"protein_id": "XP_011517769.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 360,
"cds_start": 466,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519467.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "XM_011519468.2",
"protein_id": "XP_011517770.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 348,
"cds_start": 688,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519468.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Ser207Gly",
"transcript": "XM_047425181.1",
"protein_id": "XP_047281137.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 338,
"cds_start": 619,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425181.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ser179Gly",
"transcript": "XM_017016195.2",
"protein_id": "XP_016871684.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 325,
"cds_start": 535,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016195.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ser114Gly",
"transcript": "XM_011519471.3",
"protein_id": "XP_011517773.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 318,
"cds_start": 340,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519471.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ser179Gly",
"transcript": "XM_047425184.1",
"protein_id": "XP_047281140.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 310,
"cds_start": 535,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425184.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Ser91Gly",
"transcript": "XM_011519472.3",
"protein_id": "XP_011517774.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 295,
"cds_start": 271,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519472.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ser85Gly",
"transcript": "XM_017016197.3",
"protein_id": "XP_016871686.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 289,
"cds_start": 253,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016197.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ser85Gly",
"transcript": "XM_047425185.1",
"protein_id": "XP_047281141.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 289,
"cds_start": 253,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425185.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ser156Gly",
"transcript": "XM_047425186.1",
"protein_id": "XP_047281142.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 287,
"cds_start": 466,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425186.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ser114Gly",
"transcript": "XM_017016198.2",
"protein_id": "XP_016871687.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 260,
"cds_start": 340,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016198.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "XM_017016199.2",
"protein_id": "XP_016871688.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 259,
"cds_start": 688,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016199.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Ser91Gly",
"transcript": "XM_047425189.1",
"protein_id": "XP_047281145.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 237,
"cds_start": 271,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425189.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Ser91Gly",
"transcript": "XM_047425190.1",
"protein_id": "XP_047281146.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 222,
"cds_start": 271,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425190.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.436+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000851419.1",
"protein_id": "ENSP00000521478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851419.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.457+2381A>G",
"hgvs_p": null,
"transcript": "NM_001351095.2",
"protein_id": "NP_001338024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351095.2"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.436+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000851424.1",
"protein_id": "ENSP00000521482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851424.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.283+2381A>G",
"hgvs_p": null,
"transcript": "NM_172200.3",
"protein_id": "NP_751950.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172200.3"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.283+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000528354.5",
"protein_id": "ENSP00000435454.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528354.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.283+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000530685.5",
"protein_id": "ENSP00000435995.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530685.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.193+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000532039.5",
"protein_id": "ENSP00000432691.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532039.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.283+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000851422.1",
"protein_id": "ENSP00000521481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851422.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.175+2381A>G",
"hgvs_p": null,
"transcript": "NM_001351097.2",
"protein_id": "NP_001338026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351097.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.283+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000429135.2",
"protein_id": "ENSP00000395113.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429135.2"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.175+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000397246.7",
"protein_id": "ENSP00000380420.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397246.7"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.89-3197A>G",
"hgvs_p": null,
"transcript": "ENST00000397250.6",
"protein_id": "ENSP00000380422.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397250.6"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.89-3197A>G",
"hgvs_p": null,
"transcript": "ENST00000379971.5",
"protein_id": "ENSP00000369306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379971.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.89-3296A>G",
"hgvs_p": null,
"transcript": "ENST00000851427.1",
"protein_id": "ENSP00000521486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851427.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.610+2381A>G",
"hgvs_p": null,
"transcript": "XM_011519463.3",
"protein_id": "XP_011517765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519463.3"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.610+2381A>G",
"hgvs_p": null,
"transcript": "XM_011519469.2",
"protein_id": "XP_011517771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519469.2"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.610+2381A>G",
"hgvs_p": null,
"transcript": "XM_047425182.1",
"protein_id": "XP_047281138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425182.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.388+2381A>G",
"hgvs_p": null,
"transcript": "XM_011519470.3",
"protein_id": "XP_011517772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519470.3"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.541+2381A>G",
"hgvs_p": null,
"transcript": "XM_047425183.1",
"protein_id": "XP_047281139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425183.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.263-3197A>G",
"hgvs_p": null,
"transcript": "XM_011519474.3",
"protein_id": "XP_011517776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519474.3"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.194-3197A>G",
"hgvs_p": null,
"transcript": "XM_011519475.3",
"protein_id": "XP_011517777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519475.3"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.388+2381A>G",
"hgvs_p": null,
"transcript": "XM_047425187.1",
"protein_id": "XP_047281143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425187.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.388+2381A>G",
"hgvs_p": null,
"transcript": "XM_047425188.1",
"protein_id": "XP_047281144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425188.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.263-3197A>G",
"hgvs_p": null,
"transcript": "XM_047425191.1",
"protein_id": "XP_047281147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": null,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425191.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.194-3197A>G",
"hgvs_p": null,
"transcript": "XM_011519476.3",
"protein_id": "XP_011517778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519476.3"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "c.194-3197A>G",
"hgvs_p": null,
"transcript": "XM_011519477.3",
"protein_id": "XP_011517779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519477.3"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "n.606+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000379972.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000379972.6"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "n.457+2381A>G",
"hgvs_p": null,
"transcript": "ENST00000532948.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000532948.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300557",
"gene_hgnc_id": null,
"hgvs_c": "n.323-420T>C",
"hgvs_p": null,
"transcript": "ENST00000772717.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000772717.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300557",
"gene_hgnc_id": null,
"hgvs_c": "n.255-420T>C",
"hgvs_p": null,
"transcript": "ENST00000772718.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000772718.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"hgvs_c": "n.271-3197A>G",
"hgvs_p": null,
"transcript": "NR_046362.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_046362.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984200",
"gene_hgnc_id": null,
"hgvs_c": "n.1321-420T>C",
"hgvs_p": null,
"transcript": "XR_001747348.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001747348.2"
}
],
"gene_symbol": "IL15RA",
"gene_hgnc_id": 5978,
"dbsnp": "rs143591030",
"frequency_reference_population": 0.000032195283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000138699,
"gnomad_genomes_af": 0.000197252,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06949910521507263,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.1113,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.268,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001256765.1",
"gene_symbol": "IL15RA",
"hgnc_id": 5978,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Ser207Gly"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000772717.1",
"gene_symbol": "ENSG00000300557",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.323-420T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_001747348.2",
"gene_symbol": "LOC107984200",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1321-420T>C",
"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
}