← 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: 3-9933582-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9933582&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9933582,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153460.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Asp718Asn",
"transcript": "NM_153460.4",
"protein_id": "NP_703190.2",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 720,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "ENST00000403601.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Asp718Asn",
"transcript": "ENST00000403601.8",
"protein_id": "ENSP00000384969.3",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 720,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "NM_153460.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "ENST00000413608.2",
"protein_id": "ENSP00000396064.1",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 707,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Asp703Asn",
"transcript": "ENST00000383812.9",
"protein_id": "ENSP00000373323.4",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 705,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "ENST00000416074.6",
"protein_id": "ENSP00000395315.3",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 690,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Asp686Asn",
"transcript": "ENST00000455057.5",
"protein_id": "ENSP00000407894.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 688,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1845G>A",
"hgvs_p": null,
"transcript": "ENST00000451271.5",
"protein_id": "ENSP00000412777.1",
"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": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.*584G>A",
"hgvs_p": null,
"transcript": "ENST00000483582.5",
"protein_id": "ENSP00000512844.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1845G>A",
"hgvs_p": null,
"transcript": "ENST00000451271.5",
"protein_id": "ENSP00000412777.1",
"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": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.1399+879G>A",
"hgvs_p": null,
"transcript": "ENST00000683484.1",
"protein_id": "ENSP00000507040.1",
"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": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Asp789Asn",
"transcript": "NM_153461.4",
"protein_id": "NP_703191.2",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 791,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Asp789Asn",
"transcript": "ENST00000295981.7",
"protein_id": "ENSP00000295981.3",
"transcript_support_level": 2,
"aa_start": 789,
"aa_end": null,
"aa_length": 791,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "NM_001203263.2",
"protein_id": "NP_001190192.2",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 707,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Asp703Asn",
"transcript": "NM_032732.6",
"protein_id": "NP_116121.3",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 705,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Asp692Asn",
"transcript": "NM_001367278.1",
"protein_id": "NP_001354207.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 694,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Asp692Asn",
"transcript": "ENST00000696824.1",
"protein_id": "ENSP00000512902.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 694,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "NM_001367280.1",
"protein_id": "NP_001354209.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 692,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "ENST00000696816.1",
"protein_id": "ENSP00000512897.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 692,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Asp689Asn",
"transcript": "ENST00000696825.1",
"protein_id": "ENSP00000512903.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 691,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001203264.2",
"protein_id": "NP_001190193.2",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 690,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Asp686Asn",
"transcript": "NM_001203265.2",
"protein_id": "NP_001190194.2",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 688,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"transcript": "ENST00000696828.1",
"protein_id": "ENSP00000512906.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 687,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Asp674Asn",
"transcript": "ENST00000696823.1",
"protein_id": "ENSP00000512901.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 676,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "NM_001410711.1",
"protein_id": "NP_001397640.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 675,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "ENST00000696826.1",
"protein_id": "ENSP00000512904.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 675,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Asp666Asn",
"transcript": "ENST00000438091.6",
"protein_id": "ENSP00000414609.2",
"transcript_support_level": 5,
"aa_start": 666,
"aa_end": null,
"aa_length": 668,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Asp665Asn",
"transcript": "NM_001367279.1",
"protein_id": "NP_001354208.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 667,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Asp650Asn",
"transcript": "ENST00000451165.7",
"protein_id": "ENSP00000387675.3",
"transcript_support_level": 2,
"aa_start": 650,
"aa_end": null,
"aa_length": 652,
"cds_start": 1948,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Asp646Asn",
"transcript": "ENST00000696832.1",
"protein_id": "ENSP00000512910.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 648,
"cds_start": 1936,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2368G>A",
"hgvs_p": "p.Asp790Asn",
"transcript": "XM_017007326.1",
"protein_id": "XP_016862815.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 792,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2329G>A",
"hgvs_p": "p.Asp777Asn",
"transcript": "XM_017007327.2",
"protein_id": "XP_016862816.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 779,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2329G>A",
"hgvs_p": "p.Asp777Asn",
"transcript": "XM_017007328.1",
"protein_id": "XP_016862817.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 779,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Asp776Asn",
"transcript": "XM_017007329.2",
"protein_id": "XP_016862818.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 778,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Asp776Asn",
"transcript": "XM_017007330.1",
"protein_id": "XP_016862819.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 778,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Asp775Asn",
"transcript": "XM_017007331.1",
"protein_id": "XP_016862820.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 777,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2320G>A",
"hgvs_p": "p.Asp774Asn",
"transcript": "XM_017007332.1",
"protein_id": "XP_016862821.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 776,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Asp772Asn",
"transcript": "XM_017007333.1",
"protein_id": "XP_016862822.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 774,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2293G>A",
"hgvs_p": "p.Asp765Asn",
"transcript": "XM_017007334.1",
"protein_id": "XP_016862823.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 767,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Asp761Asn",
"transcript": "XM_017007335.1",
"protein_id": "XP_016862824.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 763,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Asp761Asn",
"transcript": "XM_024453793.2",
"protein_id": "XP_024309561.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 763,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2275G>A",
"hgvs_p": "p.Asp759Asn",
"transcript": "XM_017007336.2",
"protein_id": "XP_016862825.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 761,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2269G>A",
"hgvs_p": "p.Asp757Asn",
"transcript": "XM_047449066.1",
"protein_id": "XP_047305022.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 759,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Asp750Asn",
"transcript": "XM_017007337.1",
"protein_id": "XP_016862826.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 752,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2242G>A",
"hgvs_p": "p.Asp748Asn",
"transcript": "XM_017007338.2",
"protein_id": "XP_016862827.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 750,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2230G>A",
"hgvs_p": "p.Asp744Asn",
"transcript": "XM_017007339.2",
"protein_id": "XP_016862828.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 746,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2230G>A",
"hgvs_p": "p.Asp744Asn",
"transcript": "XM_024453794.1",
"protein_id": "XP_024309562.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 746,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Asp719Asn",
"transcript": "XM_017007340.2",
"protein_id": "XP_016862829.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 721,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Asp719Asn",
"transcript": "XM_047449067.1",
"protein_id": "XP_047305023.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 721,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2116G>A",
"hgvs_p": "p.Asp706Asn",
"transcript": "XM_047449068.1",
"protein_id": "XP_047305024.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 708,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "XM_047449069.1",
"protein_id": "XP_047305025.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 707,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "XM_017007341.2",
"protein_id": "XP_016862830.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 706,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Asp701Asn",
"transcript": "XM_047449070.1",
"protein_id": "XP_047305026.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 703,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Asp694Asn",
"transcript": "XM_017007342.1",
"protein_id": "XP_016862831.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 696,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2077G>A",
"hgvs_p": "p.Asp693Asn",
"transcript": "XM_017007343.1",
"protein_id": "XP_016862832.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 695,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "XM_017007345.2",
"protein_id": "XP_016862834.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 693,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "XM_047449071.1",
"protein_id": "XP_047305027.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 693,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "XM_047449072.1",
"protein_id": "XP_047305028.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 692,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Asp680Asn",
"transcript": "XM_047449073.1",
"protein_id": "XP_047305029.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 682,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2035G>A",
"hgvs_p": "p.Asp679Asn",
"transcript": "XM_017007347.1",
"protein_id": "XP_016862836.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 681,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Asp678Asn",
"transcript": "XM_047449074.1",
"protein_id": "XP_047305030.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 680,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2029G>A",
"hgvs_p": "p.Asp677Asn",
"transcript": "XM_047449075.1",
"protein_id": "XP_047305031.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 679,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "XM_017007348.2",
"protein_id": "XP_016862837.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 675,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Asp666Asn",
"transcript": "XM_047449077.1",
"protein_id": "XP_047305033.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 668,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Asp665Asn",
"transcript": "XM_047449078.1",
"protein_id": "XP_047305034.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 667,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Asp661Asn",
"transcript": "XM_047449079.1",
"protein_id": "XP_047305035.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 663,
"cds_start": 1981,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "XM_047449080.1",
"protein_id": "XP_047305036.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 650,
"cds_start": 1942,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1535G>A",
"hgvs_p": null,
"transcript": "ENST00000451231.5",
"protein_id": "ENSP00000410834.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.2536G>A",
"hgvs_p": null,
"transcript": "ENST00000466046.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.2465G>A",
"hgvs_p": null,
"transcript": "ENST00000494365.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.1827G>A",
"hgvs_p": null,
"transcript": "ENST00000497387.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1828G>A",
"hgvs_p": null,
"transcript": "ENST00000498214.6",
"protein_id": "ENSP00000497013.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*761G>A",
"hgvs_p": null,
"transcript": "ENST00000696827.1",
"protein_id": "ENSP00000512905.1",
"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": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1506G>A",
"hgvs_p": null,
"transcript": "ENST00000696829.1",
"protein_id": "ENSP00000512907.1",
"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": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.2536G>A",
"hgvs_p": null,
"transcript": "NR_037807.2",
"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": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1535G>A",
"hgvs_p": null,
"transcript": "ENST00000451231.5",
"protein_id": "ENSP00000410834.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1828G>A",
"hgvs_p": null,
"transcript": "ENST00000498214.6",
"protein_id": "ENSP00000497013.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*761G>A",
"hgvs_p": null,
"transcript": "ENST00000696827.1",
"protein_id": "ENSP00000512905.1",
"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": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1506G>A",
"hgvs_p": null,
"transcript": "ENST00000696829.1",
"protein_id": "ENSP00000512907.1",
"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": 2041,
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.648-838G>A",
"hgvs_p": null,
"transcript": "ENST00000681970.1",
"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": 2345,
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.1387+879G>A",
"hgvs_p": null,
"transcript": "ENST00000682122.1",
"protein_id": "ENSP00000507036.1",
"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": 3390,
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.1849+879G>A",
"hgvs_p": null,
"transcript": "ENST00000683061.1",
"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": 3652,
"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": 16,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*630-838G>A",
"hgvs_p": null,
"transcript": "ENST00000696835.1",
"protein_id": "ENSP00000512913.1",
"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": 3766,
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*630-838G>A",
"hgvs_p": null,
"transcript": "ENST00000696836.1",
"protein_id": "ENSP00000512914.1",
"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": 3721,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*1459-838G>A",
"hgvs_p": null,
"transcript": "ENST00000696837.1",
"protein_id": "ENSP00000512915.1",
"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": 3839,
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*630-838G>A",
"hgvs_p": null,
"transcript": "ENST00000696838.1",
"protein_id": "ENSP00000512916.1",
"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": 3630,
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*630-838G>A",
"hgvs_p": null,
"transcript": "ENST00000696839.1",
"protein_id": "ENSP00000512917.1",
"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": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*189G>A",
"hgvs_p": null,
"transcript": "ENST00000469686.6",
"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": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.-290G>A",
"hgvs_p": null,
"transcript": "ENST00000684493.1",
"protein_id": "ENSP00000507127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.-290G>A",
"hgvs_p": null,
"transcript": "ENST00000673935.2",
"protein_id": "ENSP00000500961.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-290G>A",
"hgvs_p": null,
"transcript": "ENST00000673737.2",
"protein_id": "ENSP00000501208.1",
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-290G>A",
"hgvs_p": null,
"transcript": "ENST00000682403.1",
"protein_id": "ENSP00000507865.1",
"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": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-250G>A",
"hgvs_p": null,
"transcript": "ENST00000683083.1",
"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": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-290G>A",
"hgvs_p": null,
"transcript": "ENST00000683232.1",
"protein_id": "ENSP00000506842.1",
"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": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-228G>A",
"hgvs_p": null,
"transcript": "ENST00000683239.1",
"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": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-211G>A",
"hgvs_p": null,
"transcript": "ENST00000683279.1",
"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": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-358G>A",
"hgvs_p": null,
"transcript": "ENST00000683316.1",
"protein_id": "ENSP00000507076.1",
"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": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-358G>A",
"hgvs_p": null,
"transcript": "ENST00000683547.1",
"protein_id": "ENSP00000507258.1",
"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": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.-857G>A",
"hgvs_p": null,
"transcript": "ENST00000683970.1",
"protein_id": "ENSP00000507906.1",
"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": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.*584G>A",
"hgvs_p": null,
"transcript": "ENST00000696830.1",
"protein_id": "ENSP00000512908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1330G>A",
"hgvs_p": null,
"transcript": "ENST00000696818.1",
"protein_id": "ENSP00000512898.1",
"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": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1384G>A",
"hgvs_p": null,
"transcript": "ENST00000696819.1",
"protein_id": "ENSP00000512899.1",
"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": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*189G>A",
"hgvs_p": null,
"transcript": "ENST00000696820.1",
"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": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*189G>A",
"hgvs_p": null,
"transcript": "ENST00000696821.1",
"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": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*1330G>A",
"hgvs_p": null,
"transcript": "ENST00000696822.1",
"protein_id": "ENSP00000512900.1",
"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": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"dbsnp": "rs755919625",
"frequency_reference_population": 0.000032568558,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000283849,
"gnomad_genomes_af": 0.0000722724,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020793884992599487,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.1121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.003,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_153460.4",
"gene_symbol": "IL17RC",
"hgnc_id": 18358,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Asp718Asn"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000683484.1",
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1399+879G>A",
"hgvs_p": null
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000684493.1",
"gene_symbol": "CRELD1",
"hgnc_id": 14630,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-290G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 9, familial,Candidiasis,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Candidiasis, familial, 9|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}