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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: 3-9933492-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9933492&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IL17RC",
"hgnc_id": 18358,
"hgvs_c": "c.2275C>A",
"hgvs_p": "p.Leu759Ile",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_153461.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"hgvs_c": "n.1399+789C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000683484.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_score": -3,
"allele_count_reference_population": 90,
"alphamissense_prediction": null,
"alphamissense_score": 0.2669,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 9, familial,Candidiasis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07856371998786926,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 720,
"aa_ref": "L",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_153460.4",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Leu688Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403601.8",
"protein_coding": true,
"protein_id": "NP_703190.2",
"strand": true,
"transcript": "NM_153460.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 720,
"aa_ref": "L",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000403601.8",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Leu688Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153460.4",
"protein_coding": true,
"protein_id": "ENSP00000384969.3",
"strand": true,
"transcript": "ENST00000403601.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 707,
"aa_ref": "L",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2124,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000413608.2",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2023C>A",
"hgvs_p": "p.Leu675Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396064.1",
"strand": true,
"transcript": "ENST00000413608.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 705,
"aa_ref": "L",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2118,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000383812.9",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2017C>A",
"hgvs_p": "p.Leu673Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373323.4",
"strand": true,
"transcript": "ENST00000383812.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 690,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000416074.6",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1972C>A",
"hgvs_p": "p.Leu658Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395315.3",
"strand": true,
"transcript": "ENST00000416074.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "L",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1966,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000455057.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1966C>A",
"hgvs_p": "p.Leu656Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407894.1",
"strand": true,
"transcript": "ENST00000455057.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000483582.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.*494C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512844.1",
"strand": true,
"transcript": "ENST00000483582.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000451271.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "n.*1755C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412777.1",
"strand": true,
"transcript": "ENST00000451271.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000451271.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "n.*1755C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412777.1",
"strand": true,
"transcript": "ENST00000451271.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683484.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288550",
"hgvs_c": "n.1399+789C>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507040.1",
"strand": true,
"transcript": "ENST00000683484.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 791,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 2493,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_153461.4",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2275C>A",
"hgvs_p": "p.Leu759Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_703191.2",
"strand": true,
"transcript": "NM_153461.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 791,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 2493,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000295981.7",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2275C>A",
"hgvs_p": "p.Leu759Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295981.3",
"strand": true,
"transcript": "ENST00000295981.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 776,
"aa_ref": "L",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 2448,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2230,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000869960.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Leu744Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540019.1",
"strand": true,
"transcript": "ENST00000869960.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 764,
"aa_ref": "L",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000869962.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2194C>A",
"hgvs_p": "p.Leu732Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540021.1",
"strand": true,
"transcript": "ENST00000869962.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 751,
"aa_ref": "L",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000869980.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2155C>A",
"hgvs_p": "p.Leu719Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540039.1",
"strand": true,
"transcript": "ENST00000869980.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 751,
"aa_ref": "L",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870007.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2155C>A",
"hgvs_p": "p.Leu719Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540066.1",
"strand": true,
"transcript": "ENST00000870007.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 750,
"aa_ref": "L",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2253,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000869959.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2152C>A",
"hgvs_p": "p.Leu718Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540018.1",
"strand": true,
"transcript": "ENST00000869959.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 744,
"aa_ref": "L",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2235,
"cds_start": 2134,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000870010.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2134C>A",
"hgvs_p": "p.Leu712Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540069.1",
"strand": true,
"transcript": "ENST00000870010.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 728,
"aa_ref": "L",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2086,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000869992.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2086C>A",
"hgvs_p": "p.Leu696Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540051.1",
"strand": true,
"transcript": "ENST00000869992.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 726,
"aa_ref": "L",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2181,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000869955.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.2080C>A",
"hgvs_p": "p.Leu694Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540014.1",
"strand": true,
"transcript": "ENST00000869955.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
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