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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: 1-78627929-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78627929&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 78627929,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006820.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "NM_006820.4",
"protein_id": "NP_006811.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370751.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006820.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000370751.10",
"protein_id": "ENSP00000359787.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370751.10"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-296-1022C>T",
"hgvs_p": null,
"transcript": "ENST00000459784.6",
"protein_id": "ENSP00000506096.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459784.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "n.2260C>T",
"hgvs_p": null,
"transcript": "ENST00000486882.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486882.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "NM_001375646.1",
"protein_id": "NP_001362575.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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_001375646.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000869072.1",
"protein_id": "ENSP00000539131.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000869072.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000869073.1",
"protein_id": "ENSP00000539132.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000869073.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000869074.1",
"protein_id": "ENSP00000539133.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000869074.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000971551.1",
"protein_id": "ENSP00000641610.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000971551.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000971552.1",
"protein_id": "ENSP00000641611.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000971552.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000971553.1",
"protein_id": "ENSP00000641612.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000971553.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000971554.1",
"protein_id": "ENSP00000641613.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 452,
"cds_start": 14,
"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": "ENST00000971554.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000869071.1",
"protein_id": "ENSP00000539130.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 431,
"cds_start": 14,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869071.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"transcript": "ENST00000452835.1",
"protein_id": "ENSP00000409914.1",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 96,
"cds_start": 14,
"cds_end": null,
"cds_length": 292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452835.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-296-1022C>T",
"hgvs_p": null,
"transcript": "NM_001375647.1",
"protein_id": "NP_001362576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375647.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-52+7358C>T",
"hgvs_p": null,
"transcript": "NM_001375648.1",
"protein_id": "NP_001362577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375648.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-100-1022C>T",
"hgvs_p": null,
"transcript": "NM_001375649.1",
"protein_id": "NP_001362578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375649.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-296-1022C>T",
"hgvs_p": null,
"transcript": "NM_001375650.1",
"protein_id": "NP_001362579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375650.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-296-1022C>T",
"hgvs_p": null,
"transcript": "ENST00000679848.1",
"protein_id": "ENSP00000506000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679848.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-296-1022C>T",
"hgvs_p": null,
"transcript": "ENST00000679998.1",
"protein_id": "ENSP00000504938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679998.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-47+7358C>T",
"hgvs_p": null,
"transcript": "ENST00000680110.1",
"protein_id": "ENSP00000505974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680110.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFI44L",
"gene_hgnc_id": 17817,
"hgvs_c": "c.-52+7358C>T",
"hgvs_p": null,
"transcript": "ENST00000680295.1",
"protein_id": "ENSP00000506722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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},
{
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"protein_coding": false,
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],
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},
{
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"strand": true,
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],
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},
{
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],
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{
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "IFI44L",
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"transcript": "ENST00000450498.1",
"protein_id": "ENSP00000400784.1",
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"biotype": "protein_coding",
"feature": "ENST00000450498.1"
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],
"gene_symbol": "IFI44L",
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"dbsnp": "rs375524121",
"frequency_reference_population": 0.000034515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000173425,
"gnomad_genomes_af": 0.000197415,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11234918236732483,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.726,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.152,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.35,
"spliceai_max_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_006820.4",
"gene_symbol": "IFI44L",
"hgnc_id": 17817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile"
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],
"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
}