← 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: 3-53849715-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53849715&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53849715,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018725.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "NM_018725.4",
"protein_id": "NP_061195.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 502,
"cds_start": 146,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288167.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018725.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000288167.8",
"protein_id": "ENSP00000288167.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 502,
"cds_start": 146,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018725.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288167.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899729.1",
"protein_id": "ENSP00000569788.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 589,
"cds_start": 146,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899729.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899731.1",
"protein_id": "ENSP00000569790.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 560,
"cds_start": 146,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899731.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899724.1",
"protein_id": "ENSP00000569783.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 531,
"cds_start": 146,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899724.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899723.1",
"protein_id": "ENSP00000569782.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 515,
"cds_start": 146,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899723.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899722.1",
"protein_id": "ENSP00000569781.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 499,
"cds_start": 146,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899722.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899732.1",
"protein_id": "ENSP00000569791.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 499,
"cds_start": 146,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899732.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000912107.1",
"protein_id": "ENSP00000582166.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 482,
"cds_start": 146,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912107.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899728.1",
"protein_id": "ENSP00000569787.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 417,
"cds_start": 146,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899728.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000899730.1",
"protein_id": "ENSP00000569789.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 401,
"cds_start": 146,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899730.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000494338.1",
"protein_id": "ENSP00000418638.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 347,
"cds_start": 146,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.60+3067G>A",
"hgvs_p": null,
"transcript": "ENST00000963738.1",
"protein_id": "ENSP00000633797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.60+3067G>A",
"hgvs_p": null,
"transcript": "ENST00000899726.1",
"protein_id": "ENSP00000569785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.60+3067G>A",
"hgvs_p": null,
"transcript": "ENST00000899727.1",
"protein_id": "ENSP00000569786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "c.85+1027G>A",
"hgvs_p": null,
"transcript": "ENST00000899725.1",
"protein_id": "ENSP00000569784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"hgvs_c": "n.151G>A",
"hgvs_p": null,
"transcript": "ENST00000475124.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475124.1"
}
],
"gene_symbol": "IL17RB",
"gene_hgnc_id": 18015,
"dbsnp": "rs116821431",
"frequency_reference_population": 0.00065521296,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1057,
"gnomad_exomes_af": 0.000454464,
"gnomad_genomes_af": 0.00258291,
"gnomad_exomes_ac": 664,
"gnomad_genomes_ac": 393,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0045233964920043945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.745,
"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,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018725.4",
"gene_symbol": "IL17RB",
"hgnc_id": 18015,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}