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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: 3-9928347-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9928347&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9928347,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153461.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.920A>C",
"hgvs_p": "p.Gln307Pro",
"transcript": "NM_153460.4",
"protein_id": "NP_703190.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 720,
"cds_start": 920,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403601.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153460.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.920A>C",
"hgvs_p": "p.Gln307Pro",
"transcript": "ENST00000403601.8",
"protein_id": "ENSP00000384969.3",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 720,
"cds_start": 920,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403601.8"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.920A>C",
"hgvs_p": "p.Gln307Pro",
"transcript": "ENST00000413608.2",
"protein_id": "ENSP00000396064.1",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 707,
"cds_start": 920,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413608.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Gln292Pro",
"transcript": "ENST00000383812.9",
"protein_id": "ENSP00000373323.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 705,
"cds_start": 875,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383812.9"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.920A>C",
"hgvs_p": "p.Gln307Pro",
"transcript": "ENST00000416074.6",
"protein_id": "ENSP00000395315.3",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 690,
"cds_start": 920,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416074.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Gln292Pro",
"transcript": "ENST00000455057.5",
"protein_id": "ENSP00000407894.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 688,
"cds_start": 875,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455057.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Gln292Pro",
"transcript": "ENST00000483582.5",
"protein_id": "ENSP00000512844.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 538,
"cds_start": 875,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483582.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.845A>C",
"hgvs_p": "p.Gln282Pro",
"transcript": "ENST00000436503.6",
"protein_id": "ENSP00000401128.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 468,
"cds_start": 845,
"cds_end": null,
"cds_length": 1408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436503.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*703A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451271.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.1492A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469686.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.836A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "n.*703A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451271.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1133A>C",
"hgvs_p": "p.Gln378Pro",
"transcript": "NM_153461.4",
"protein_id": "NP_703191.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 791,
"cds_start": 1133,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153461.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1133A>C",
"hgvs_p": "p.Gln378Pro",
"transcript": "ENST00000295981.7",
"protein_id": "ENSP00000295981.3",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 791,
"cds_start": 1133,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295981.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Gln363Pro",
"transcript": "ENST00000869960.1",
"protein_id": "ENSP00000540019.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 776,
"cds_start": 1088,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869960.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Gln351Pro",
"transcript": "ENST00000869962.1",
"protein_id": "ENSP00000540021.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 764,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869962.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1013A>C",
"hgvs_p": "p.Gln338Pro",
"transcript": "ENST00000869980.1",
"protein_id": "ENSP00000540039.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 751,
"cds_start": 1013,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869980.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Gln351Pro",
"transcript": "ENST00000870007.1",
"protein_id": "ENSP00000540066.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 751,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870007.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1049A>C",
"hgvs_p": "p.Gln350Pro",
"transcript": "ENST00000869959.1",
"protein_id": "ENSP00000540018.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 750,
"cds_start": 1049,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869959.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.1052A>C",
"hgvs_p": "p.Gln351Pro",
"transcript": "ENST00000870010.1",
"protein_id": "ENSP00000540069.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 744,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870010.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.944A>C",
"hgvs_p": "p.Gln315Pro",
"transcript": "ENST00000869992.1",
"protein_id": "ENSP00000540051.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 728,
"cds_start": 944,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869992.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RC",
"gene_hgnc_id": 18358,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Gln325Pro",
"transcript": "ENST00000869955.1",
"protein_id": "ENSP00000540014.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 726,
"cds_start": 974,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08300217986106873,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.3172,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.078,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153461.4",
"gene_symbol": "IL17RC",
"hgnc_id": 18358,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1133A>C",
"hgvs_p": "p.Gln378Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000683484.1",
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.836A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}