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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-9917372-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9917372&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9917372,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_153460.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_153460.4",
"protein_id": "NP_703190.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 720,
"cds_start": 57,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "ENST00000403601.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000403601.8",
"protein_id": "ENSP00000384969.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 720,
"cds_start": 57,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "NM_153460.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000413608.2",
"protein_id": "ENSP00000396064.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 707,
"cds_start": 57,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000383812.9",
"protein_id": "ENSP00000373323.4",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 705,
"cds_start": 57,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000416074.6",
"protein_id": "ENSP00000395315.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 690,
"cds_start": 57,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000455057.5",
"protein_id": "ENSP00000407894.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 688,
"cds_start": 57,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000483582.5",
"protein_id": "ENSP00000512844.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 538,
"cds_start": 57,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000436503.6",
"protein_id": "ENSP00000401128.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 468,
"cds_start": 57,
"cds_end": null,
"cds_length": 1408,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1605,
"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": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.57T>C",
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.275T>C",
"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": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.57T>C",
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_153461.4",
"protein_id": "NP_703191.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 791,
"cds_start": 57,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000295981.7",
"protein_id": "ENSP00000295981.3",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 791,
"cds_start": 57,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_001203263.2",
"protein_id": "NP_001190192.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 707,
"cds_start": 57,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_032732.6",
"protein_id": "NP_116121.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 705,
"cds_start": 57,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_001367278.1",
"protein_id": "NP_001354207.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 694,
"cds_start": 57,
"cds_end": null,
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"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000696824.1",
"protein_id": "ENSP00000512902.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 694,
"cds_start": 57,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_001367280.1",
"protein_id": "NP_001354209.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 692,
"cds_start": 57,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000696816.1",
"protein_id": "ENSP00000512897.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 692,
"cds_start": 57,
"cds_end": null,
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"cdna_start": 259,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000696825.1",
"protein_id": "ENSP00000512903.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 691,
"cds_start": 57,
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"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_001203264.2",
"protein_id": "NP_001190193.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 690,
"cds_start": 57,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "NM_001203265.2",
"protein_id": "NP_001190194.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 688,
"cds_start": 57,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu",
"transcript": "ENST00000696828.1",
"protein_id": "ENSP00000512906.1",
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"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.57T>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.275T>C",
"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
}
],
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"dbsnp": "rs1053229723",
"frequency_reference_population": 0.00001363063,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.00000889268,
"gnomad_genomes_af": 0.0000591576,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.001,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_153460.4",
"gene_symbol": "IL17RC",
"hgnc_id": 18358,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.57T>C",
"hgvs_p": "p.Leu19Leu"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000683484.1",
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.57T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 9, familial,Candidiasis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Candidiasis, familial, 9",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}