← 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: 16-27363079-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27363079&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27363079,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000418.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "NM_000418.4",
"protein_id": "NP_000409.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000395762.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000418.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000395762.7",
"protein_id": "ENSP00000379111.2",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_000418.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395762.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000543915.6",
"protein_id": "ENSP00000441667.2",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543915.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1748A>G",
"hgvs_p": "p.Gln583Arg",
"transcript": "ENST00000912076.1",
"protein_id": "ENSP00000582135.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 832,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912076.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "NM_001257406.2",
"protein_id": "NP_001244335.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257406.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856359.1",
"protein_id": "ENSP00000526418.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856359.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856360.1",
"protein_id": "ENSP00000526419.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856360.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856361.1",
"protein_id": "ENSP00000526420.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856361.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856362.1",
"protein_id": "ENSP00000526421.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856362.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856363.1",
"protein_id": "ENSP00000526422.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856363.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856364.1",
"protein_id": "ENSP00000526423.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856364.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856365.1",
"protein_id": "ENSP00000526424.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856365.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856366.1",
"protein_id": "ENSP00000526425.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856366.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856367.1",
"protein_id": "ENSP00000526426.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856367.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856368.1",
"protein_id": "ENSP00000526427.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856368.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856369.1",
"protein_id": "ENSP00000526428.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856369.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856370.1",
"protein_id": "ENSP00000526429.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856370.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856372.1",
"protein_id": "ENSP00000526431.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856372.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856373.1",
"protein_id": "ENSP00000526432.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856373.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856374.1",
"protein_id": "ENSP00000526433.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856374.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856375.1",
"protein_id": "ENSP00000526434.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856375.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856376.1",
"protein_id": "ENSP00000526435.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856376.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856377.1",
"protein_id": "ENSP00000526436.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856377.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000856378.1",
"protein_id": "ENSP00000526437.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856378.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000912074.1",
"protein_id": "ENSP00000582133.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912074.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944738.1",
"protein_id": "ENSP00000614797.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944738.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944739.1",
"protein_id": "ENSP00000614798.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944739.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944740.1",
"protein_id": "ENSP00000614799.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944740.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944741.1",
"protein_id": "ENSP00000614800.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944741.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944742.1",
"protein_id": "ENSP00000614801.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944742.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944743.1",
"protein_id": "ENSP00000614802.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2767,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944743.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "ENST00000944744.1",
"protein_id": "ENSP00000614803.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944744.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Gln573Arg",
"transcript": "ENST00000912075.1",
"protein_id": "ENSP00000582134.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 822,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912075.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Gln561Arg",
"transcript": "NM_001257407.2",
"protein_id": "NP_001244336.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 810,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257407.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Gln561Arg",
"transcript": "ENST00000170630.6",
"protein_id": "ENSP00000170630.3",
"transcript_support_level": 5,
"aa_start": 561,
"aa_end": null,
"aa_length": 810,
"cds_start": 1682,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000170630.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Gln536Arg",
"transcript": "ENST00000856371.1",
"protein_id": "ENSP00000526430.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 785,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856371.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Gln416Arg",
"transcript": "NM_001257997.2",
"protein_id": "NP_001244926.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 665,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257997.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Gln601Arg",
"transcript": "XM_047434066.1",
"protein_id": "XP_047290022.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 850,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434066.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "XM_011545825.2",
"protein_id": "XP_011544127.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545825.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "XM_011545826.3",
"protein_id": "XP_011544128.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545826.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "XM_011545827.3",
"protein_id": "XP_011544129.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545827.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg",
"transcript": "XM_047434067.1",
"protein_id": "XP_047290023.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434067.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "XM_011545828.3",
"protein_id": "XP_011544130.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 736,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545828.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1430A>G",
"hgvs_p": "p.Gln477Arg",
"transcript": "XM_011545833.2",
"protein_id": "XP_011544135.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 726,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545833.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1430A>G",
"hgvs_p": "p.Gln477Arg",
"transcript": "XM_047434068.1",
"protein_id": "XP_047290024.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 726,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434068.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Gln435Arg",
"transcript": "XM_011545834.3",
"protein_id": "XP_011544136.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 684,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545834.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Gln279Arg",
"transcript": "XM_005255308.2",
"protein_id": "XP_005255365.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 528,
"cds_start": 836,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255308.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*762A>G",
"hgvs_p": null,
"transcript": "XM_017023211.2",
"protein_id": "XP_016878700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023211.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.230-1024A>G",
"hgvs_p": null,
"transcript": "ENST00000565352.1",
"protein_id": "ENSP00000461268.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*1770A>G",
"hgvs_p": null,
"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
"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": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568746.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*1770A>G",
"hgvs_p": null,
"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
"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": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568746.5"
}
],
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"dbsnp": "rs1801275",
"frequency_reference_population": 0.23622878,
"hom_count_reference_population": 54272,
"allele_count_reference_population": 381252,
"gnomad_exomes_af": 0.224659,
"gnomad_genomes_af": 0.347353,
"gnomad_exomes_ac": 328389,
"gnomad_genomes_ac": 52863,
"gnomad_exomes_homalt": 41529,
"gnomad_genomes_homalt": 12743,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011686488505802117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0477,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.046,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000418.4",
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1727A>G",
"hgvs_p": "p.Gln576Arg"
}
],
"clinvar_disease": "RECLASSIFIED - MYOC POLYMORPHISM",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RECLASSIFIED - MYOC POLYMORPHISM",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}