← 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: 5-132489448-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132489448&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132489448,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000245414.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "NM_002198.3",
"protein_id": "NP_002189.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 325,
"cds_start": 31,
"cds_end": null,
"cds_length": 978,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "ENST00000245414.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000245414.9",
"protein_id": "ENSP00000245414.4",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 325,
"cds_start": 31,
"cds_end": null,
"cds_length": 978,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "NM_002198.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.246T>C",
"hgvs_p": null,
"transcript": "ENST00000493208.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.31T>C",
"hgvs_p": null,
"transcript": "ENST00000613424.5",
"protein_id": "ENSP00000480887.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-169+39759A>G",
"hgvs_p": null,
"transcript": "ENST00000638452.2",
"protein_id": "ENSP00000492349.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000405885.6",
"protein_id": "ENSP00000384406.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 325,
"cds_start": 31,
"cds_end": null,
"cds_length": 978,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "NM_001354924.1",
"protein_id": "NP_001341853.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 284,
"cds_start": 31,
"cds_end": null,
"cds_length": 855,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000680903.1",
"protein_id": "ENSP00000505720.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 284,
"cds_start": 31,
"cds_end": null,
"cds_length": 855,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "NM_001354925.1",
"protein_id": "NP_001341854.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 263,
"cds_start": 31,
"cds_end": null,
"cds_length": 792,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000680139.1",
"protein_id": "ENSP00000506148.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 263,
"cds_start": 31,
"cds_end": null,
"cds_length": 792,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000458069.5",
"protein_id": "ENSP00000396318.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 191,
"cds_start": 31,
"cds_end": null,
"cds_length": 577,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000437654.6",
"protein_id": "ENSP00000405655.2",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 188,
"cds_start": 31,
"cds_end": null,
"cds_length": 568,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000476613.1",
"protein_id": "ENSP00000473661.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 117,
"cds_start": 31,
"cds_end": null,
"cds_length": 356,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000679499.1",
"protein_id": "ENSP00000505066.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 60,
"cds_start": 31,
"cds_end": null,
"cds_length": 184,
"cdna_start": 36,
"cdna_end": null,
"cdna_length": 189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000679440.1",
"protein_id": "ENSP00000506401.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 28,
"cds_start": 31,
"cds_end": null,
"cds_length": 87,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000680796.1",
"protein_id": "ENSP00000506572.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 28,
"cds_start": 31,
"cds_end": null,
"cds_length": 87,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg",
"transcript": "ENST00000681584.1",
"protein_id": "ENSP00000505448.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 28,
"cds_start": 31,
"cds_end": null,
"cds_length": 87,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.31T>C",
"hgvs_p": null,
"transcript": "ENST00000439555.2",
"protein_id": "ENSP00000392455.1",
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.257T>C",
"hgvs_p": null,
"transcript": "ENST00000459982.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.265T>C",
"hgvs_p": null,
"transcript": "NR_149068.1",
"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": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.265T>C",
"hgvs_p": null,
"transcript": "NR_149069.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1042,
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-311+39759A>G",
"hgvs_p": null,
"transcript": "ENST00000638568.2",
"protein_id": "ENSP00000491158.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7956,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-169+2788A>G",
"hgvs_p": null,
"transcript": "ENST00000640655.2",
"protein_id": "ENSP00000491596.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.-7+1097T>C",
"hgvs_p": null,
"transcript": "ENST00000680352.1",
"protein_id": "ENSP00000506176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 94,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "n.206+69508A>G",
"hgvs_p": null,
"transcript": "ENST00000638504.1",
"protein_id": null,
"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": 7262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "n.289+39759A>G",
"hgvs_p": null,
"transcript": "ENST00000639899.1",
"protein_id": null,
"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": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.-66+1097T>C",
"hgvs_p": null,
"transcript": "ENST00000679921.1",
"protein_id": "ENSP00000505766.1",
"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": 935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.-7+1097T>C",
"hgvs_p": null,
"transcript": "XM_047417153.1",
"protein_id": "XP_047273109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.-66+1097T>C",
"hgvs_p": null,
"transcript": "XM_011543379.3",
"protein_id": "XP_011541681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.-66+1097T>C",
"hgvs_p": null,
"transcript": "XM_047417154.1",
"protein_id": "XP_047273110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"dbsnp": "rs121912470",
"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": 0.9869176745414734,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.972,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.135,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000245414.9",
"gene_symbol": "IRF1",
"hgnc_id": 6116,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Trp11Arg"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000638452.2",
"gene_symbol": "ENSG00000283782",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-169+39759A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Non-small cell lung carcinoma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Non-small cell lung carcinoma",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}