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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: 11-3089909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3089909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3089909,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020896.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "NM_020896.4",
"protein_id": "NP_065947.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 879,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263650.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020896.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "ENST00000263650.12",
"protein_id": "ENSP00000263650.7",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 879,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020896.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263650.12"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "ENST00000389989.7",
"protein_id": "ENSP00000374639.3",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 811,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389989.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "ENST00000866647.1",
"protein_id": "ENSP00000536706.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 879,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866647.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "ENST00000965672.1",
"protein_id": "ENSP00000635731.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 879,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965672.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811Gln",
"transcript": "ENST00000866648.1",
"protein_id": "ENSP00000536707.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 877,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866648.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783Gln",
"transcript": "ENST00000965673.1",
"protein_id": "ENSP00000635732.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 849,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965673.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "NM_001144063.2",
"protein_id": "NP_001137535.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 811,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144063.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "NM_145638.3",
"protein_id": "NP_663613.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 811,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145638.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "ENST00000348039.9",
"protein_id": "ENSP00000302872.8",
"transcript_support_level": 2,
"aa_start": 745,
"aa_end": null,
"aa_length": 811,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348039.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "ENST00000866650.1",
"protein_id": "ENSP00000536709.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 811,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866650.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2171G>A",
"hgvs_p": "p.Arg724Gln",
"transcript": "ENST00000525498.5",
"protein_id": "ENSP00000433342.1",
"transcript_support_level": 2,
"aa_start": 724,
"aa_end": null,
"aa_length": 790,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525498.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715Gln",
"transcript": "ENST00000866649.1",
"protein_id": "ENSP00000536708.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 781,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866649.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Gln",
"transcript": "ENST00000534454.5",
"protein_id": "ENSP00000431412.1",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 432,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534454.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "ENST00000478260.5",
"protein_id": "ENSP00000437141.1",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 333,
"cds_start": 800,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478260.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "XM_011519873.4",
"protein_id": "XP_011518175.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 879,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519873.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "XM_017017163.3",
"protein_id": "XP_016872652.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 879,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017163.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "n.*1237G>A",
"hgvs_p": null,
"transcript": "ENST00000471998.6",
"protein_id": "ENSP00000434265.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000471998.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000498536.5",
"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": "ENST00000498536.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"hgvs_c": "n.*1237G>A",
"hgvs_p": null,
"transcript": "ENST00000471998.6",
"protein_id": "ENSP00000434265.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000471998.6"
}
],
"gene_symbol": "OSBPL5",
"gene_hgnc_id": 16392,
"dbsnp": "rs549339222",
"frequency_reference_population": 0.0000191509,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000197979,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010727137327194214,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0623,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.321,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020896.4",
"gene_symbol": "OSBPL5",
"hgnc_id": 16392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}