← 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: 7-128947283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128947283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128947283,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357234.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "NM_001098629.3",
"protein_id": "NP_001092099.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "ENST00000357234.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "ENST00000357234.10",
"protein_id": "ENSP00000349770.5",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "NM_001098629.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "ENST00000402030.6",
"protein_id": "ENSP00000385352.2",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.481+227G>A",
"hgvs_p": null,
"transcript": "ENST00000477535.5",
"protein_id": "ENSP00000419950.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "NM_001347928.2",
"protein_id": "NP_001334857.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "NM_001364314.2",
"protein_id": "NP_001351243.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "ENST00000489702.6",
"protein_id": "ENSP00000418037.2",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "NM_001098627.4",
"protein_id": "NP_001092097.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "NM_001098630.3",
"protein_id": "NP_001092100.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "NM_032643.5",
"protein_id": "NP_116032.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "ENST00000473745.5",
"protein_id": "ENSP00000419149.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "XM_006715974.3",
"protein_id": "XP_006716037.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "XM_011516158.4",
"protein_id": "XP_011514460.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "XM_011516159.4",
"protein_id": "XP_011514461.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "XM_011516160.2",
"protein_id": "XP_011514462.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "XM_047420336.1",
"protein_id": "XP_047276292.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 514,
"cds_start": 535,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"transcript": "XM_047420337.1",
"protein_id": "XP_047276293.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 504,
"cds_start": 535,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "XM_047420338.1",
"protein_id": "XP_047276294.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "XM_047420339.1",
"protein_id": "XP_047276295.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 498,
"cds_start": 487,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Ile",
"transcript": "XM_047420340.1",
"protein_id": "XP_047276296.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 488,
"cds_start": 487,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2821,
"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": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.788G>A",
"hgvs_p": null,
"transcript": "ENST00000461416.1",
"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": 1057,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000465603.5",
"protein_id": "ENSP00000418534.1",
"transcript_support_level": 5,
"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": 2088,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.485G>A",
"hgvs_p": null,
"transcript": "ENST00000652142.1",
"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": 497,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.771G>A",
"hgvs_p": null,
"transcript": "ENST00000700148.1",
"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": 2990,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.3037G>A",
"hgvs_p": null,
"transcript": "ENST00000700151.1",
"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": 5256,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.2577G>A",
"hgvs_p": null,
"transcript": "ENST00000700152.1",
"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": 4796,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.1951G>A",
"hgvs_p": null,
"transcript": "ENST00000700153.1",
"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": 4170,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000465603.5",
"protein_id": "ENSP00000418534.1",
"transcript_support_level": 5,
"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": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.481+227G>A",
"hgvs_p": null,
"transcript": "NM_001242452.3",
"protein_id": "NP_001229381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.*27G>A",
"hgvs_p": null,
"transcript": "ENST00000650798.1",
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"dbsnp": "rs1796357991",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05732381343841553,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.0736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.213,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000357234.10",
"gene_symbol": "IRF5",
"hgnc_id": 6120,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile"
}
],
"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
}