← 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: 12-25079751-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=25079751&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 25079751,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394803.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366544.2",
"protein_id": "NP_001353473.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "ENST00000556887.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366544.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000556887.6",
"protein_id": "ENSP00000451048.2",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "NM_001366544.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556887.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000354454.7",
"protein_id": "ENSP00000346442.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354454.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000547044.5",
"protein_id": "ENSP00000450246.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547044.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000557489.6",
"protein_id": "ENSP00000452116.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557489.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000550945.5",
"protein_id": "ENSP00000448534.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 117,
"cds_start": 232,
"cds_end": null,
"cds_length": 356,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550945.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.232A>T",
"hgvs_p": null,
"transcript": "ENST00000361433.6",
"protein_id": "ENSP00000354805.2",
"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": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000361433.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.3097A>T",
"hgvs_p": "p.Ile1033Leu",
"transcript": "ENST00000636465.1",
"protein_id": "ENSP00000489956.1",
"transcript_support_level": 5,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3097,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636465.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.3073A>T",
"hgvs_p": "p.Ile1025Leu",
"transcript": "NM_001394803.1",
"protein_id": "NP_001381732.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3073,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394803.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001204126.2",
"protein_id": "NP_001191055.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204126.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001204127.2",
"protein_id": "NP_001191056.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204127.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366540.1",
"protein_id": "NP_001353469.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366540.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366541.2",
"protein_id": "NP_001353470.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366541.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366542.2",
"protein_id": "NP_001353471.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366542.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366543.2",
"protein_id": "NP_001353472.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366543.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366545.2",
"protein_id": "NP_001353474.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366545.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366546.2",
"protein_id": "NP_001353475.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366546.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366547.2",
"protein_id": "NP_001353476.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366547.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_006152.4",
"protein_id": "NP_006143.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006152.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000548766.5",
"protein_id": "ENSP00000446496.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548766.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000878408.1",
"protein_id": "ENSP00000548467.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878408.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000878409.1",
"protein_id": "ENSP00000548468.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878409.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000878410.1",
"protein_id": "ENSP00000548469.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878410.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000878411.1",
"protein_id": "ENSP00000548470.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878411.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000940909.1",
"protein_id": "ENSP00000610968.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940909.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000940910.1",
"protein_id": "ENSP00000610969.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940910.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000940911.1",
"protein_id": "ENSP00000610970.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940911.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "ENST00000940912.1",
"protein_id": "ENSP00000610971.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940912.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "NM_001366548.2",
"protein_id": "NP_001353477.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 487,
"cds_start": 232,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366548.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.73A>T",
"hgvs_p": "p.Ile25Leu",
"transcript": "NM_001366549.2",
"protein_id": "NP_001353478.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 446,
"cds_start": 73,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366549.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.73A>T",
"hgvs_p": "p.Ile25Leu",
"transcript": "ENST00000536173.5",
"protein_id": "ENSP00000444056.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 446,
"cds_start": 73,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536173.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ile78Leu",
"transcript": "XM_047428840.1",
"protein_id": "XP_047284796.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 499,
"cds_start": 232,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428840.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.73A>T",
"hgvs_p": "p.Ile25Leu",
"transcript": "XM_047428841.1",
"protein_id": "XP_047284797.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 446,
"cds_start": 73,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428841.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.73A>T",
"hgvs_p": "p.Ile25Leu",
"transcript": "XM_047428842.1",
"protein_id": "XP_047284798.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 446,
"cds_start": 73,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.1088A>T",
"hgvs_p": null,
"transcript": "ENST00000549437.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000549437.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.186A>T",
"hgvs_p": null,
"transcript": "ENST00000554272.5",
"protein_id": "ENSP00000451159.1",
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.225A>T",
"hgvs_p": null,
"transcript": "ENST00000557472.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.821A>T",
"hgvs_p": null,
"transcript": "NR_159366.2",
"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": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159366.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.867A>T",
"hgvs_p": null,
"transcript": "NR_159367.2",
"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": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159367.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.929A>T",
"hgvs_p": null,
"transcript": "NR_159368.2",
"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": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159368.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.883A>T",
"hgvs_p": null,
"transcript": "NR_159369.2",
"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": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159369.2"
},
{
"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": "ENSG00000298872",
"gene_hgnc_id": null,
"hgvs_c": "n.227-41T>A",
"hgvs_p": null,
"transcript": "ENST00000758573.1",
"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": 360,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000758573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.*2A>T",
"hgvs_p": null,
"transcript": "ENST00000554942.5",
"protein_id": "ENSP00000450634.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554942.5"
}
],
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"dbsnp": "rs1206099817",
"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": 0.0901075005531311,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.438,
"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": "NM_001394803.1",
"gene_symbol": "IRAG2",
"hgnc_id": 6690,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3073A>T",
"hgvs_p": "p.Ile1025Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000758573.1",
"gene_symbol": "ENSG00000298872",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.227-41T>A",
"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
}