← 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: 19-49659652-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49659652&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49659652,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001197122.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "NM_001571.6",
"protein_id": "NP_001562.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377139.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001571.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000377139.8",
"protein_id": "ENSP00000366344.3",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001571.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377139.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Glu432Asp",
"transcript": "ENST00000601291.5",
"protein_id": "ENSP00000471896.1",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 452,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601291.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000309877.11",
"protein_id": "ENSP00000310127.6",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309877.11"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Ser300Ile",
"transcript": "ENST00000599223.5",
"protein_id": "ENSP00000471358.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 300,
"cds_start": 899,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599223.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "ENST00000593922.5",
"protein_id": "ENSP00000472601.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593922.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "ENST00000599144.5",
"protein_id": "ENSP00000470069.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599144.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "ENST00000596765.5",
"protein_id": "ENSP00000470512.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 154,
"cds_start": 461,
"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": "ENST00000596765.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "ENST00000600022.5",
"protein_id": "ENSP00000472700.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 154,
"cds_start": 461,
"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": "ENST00000600022.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Glu432Asp",
"transcript": "NM_001197122.2",
"protein_id": "NP_001184051.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 452,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197122.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000597198.5",
"protein_id": "ENSP00000469113.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597198.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000890747.1",
"protein_id": "ENSP00000560806.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890747.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000890751.1",
"protein_id": "ENSP00000560810.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890751.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000921361.1",
"protein_id": "ENSP00000591420.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921361.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "ENST00000942552.1",
"protein_id": "ENSP00000612611.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942552.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1164G>T",
"hgvs_p": "p.Glu388Asp",
"transcript": "ENST00000600911.5",
"protein_id": "ENSP00000470431.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 408,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600911.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1175G>T",
"hgvs_p": "p.Ser392Ile",
"transcript": "NM_001197123.2",
"protein_id": "NP_001184052.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 392,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197123.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Ser371Ile",
"transcript": "ENST00000921362.1",
"protein_id": "ENSP00000591421.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 371,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921362.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Ser371Ile",
"transcript": "ENST00000942553.1",
"protein_id": "ENSP00000612612.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 371,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942553.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1043G>T",
"hgvs_p": "p.Ser348Ile",
"transcript": "ENST00000890748.1",
"protein_id": "ENSP00000560807.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 348,
"cds_start": 1043,
"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": "ENST00000890748.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1043G>T",
"hgvs_p": "p.Ser348Ile",
"transcript": "ENST00000890750.1",
"protein_id": "ENSP00000560809.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 348,
"cds_start": 1043,
"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": "ENST00000890750.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1019G>T",
"hgvs_p": "p.Ser340Ile",
"transcript": "ENST00000890749.1",
"protein_id": "ENSP00000560808.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 340,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890749.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Ser300Ile",
"transcript": "NM_001197124.2",
"protein_id": "NP_001184053.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 300,
"cds_start": 899,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197124.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "NM_001197125.2",
"protein_id": "NP_001184054.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197125.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "NM_001197126.2",
"protein_id": "NP_001184055.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197126.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "ENST00000598808.5",
"protein_id": "ENSP00000472582.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598808.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "ENST00000601373.6",
"protein_id": "ENSP00000471402.2",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601373.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Ser244Ile",
"transcript": "ENST00000921360.1",
"protein_id": "ENSP00000591419.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 244,
"cds_start": 731,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921360.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "NM_001197127.2",
"protein_id": "NP_001184056.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 154,
"cds_start": 461,
"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": "NM_001197127.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Ser154Ile",
"transcript": "NM_001197128.2",
"protein_id": "NP_001184057.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 154,
"cds_start": 461,
"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": "NM_001197128.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Glu115Asp",
"transcript": "ENST00000596822.5",
"protein_id": "ENSP00000468911.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 135,
"cds_start": 345,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596822.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Glu432Asp",
"transcript": "XM_006723197.1",
"protein_id": "XP_006723260.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 452,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723197.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Glu432Asp",
"transcript": "XM_006723198.2",
"protein_id": "XP_006723261.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 452,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723198.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "XM_017026766.2",
"protein_id": "XP_016882255.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026766.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1280G>T",
"hgvs_p": "p.Ser427Ile",
"transcript": "XM_017026767.2",
"protein_id": "XP_016882256.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026767.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1191G>T",
"hgvs_p": "p.Glu397Asp",
"transcript": "XM_006723200.2",
"protein_id": "XP_006723263.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 417,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723200.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1137G>T",
"hgvs_p": "p.Glu379Asp",
"transcript": "XM_047438782.1",
"protein_id": "XP_047294738.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 399,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438782.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.1121G>T",
"hgvs_p": "p.Ser374Ile",
"transcript": "XM_047438783.1",
"protein_id": "XP_047294739.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 374,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438783.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Glu286Asp",
"transcript": "XM_006723201.2",
"protein_id": "XP_006723264.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 306,
"cds_start": 858,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723201.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Glu286Asp",
"transcript": "XM_024451494.2",
"protein_id": "XP_024307262.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 306,
"cds_start": 858,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451494.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Glu286Asp",
"transcript": "XM_024451495.2",
"protein_id": "XP_024307263.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 306,
"cds_start": 858,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451495.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Glu286Asp",
"transcript": "XM_047438784.1",
"protein_id": "XP_047294740.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 306,
"cds_start": 858,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438784.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Ser281Ile",
"transcript": "XM_047438785.1",
"protein_id": "XP_047294741.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.*809G>T",
"hgvs_p": null,
"transcript": "ENST00000442265.3",
"protein_id": "ENSP00000400378.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000442265.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.473G>T",
"hgvs_p": null,
"transcript": "ENST00000596644.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596644.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.*788G>T",
"hgvs_p": null,
"transcript": "ENST00000597636.5",
"protein_id": "ENSP00000470436.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000597636.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.389G>T",
"hgvs_p": null,
"transcript": "ENST00000599680.1",
"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": "ENST00000599680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.1662G>T",
"hgvs_p": null,
"transcript": "NR_045568.2",
"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_045568.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.*809G>T",
"hgvs_p": null,
"transcript": "ENST00000442265.3",
"protein_id": "ENSP00000400378.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000442265.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "n.*788G>T",
"hgvs_p": null,
"transcript": "ENST00000597636.5",
"protein_id": "ENSP00000470436.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000597636.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"hgvs_c": "c.*106G>T",
"hgvs_p": null,
"transcript": "ENST00000596756.5",
"protein_id": "ENSP00000473128.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596756.5"
}
],
"gene_symbol": "IRF3",
"gene_hgnc_id": 6118,
"dbsnp": "rs7251",
"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": 0.07384365797042847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.131,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.636,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001197122.2",
"gene_symbol": "IRF3",
"hgnc_id": 6118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1296G>T",
"hgvs_p": "p.Glu432Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}