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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: 16-22100460-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=22100460&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 22100460,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173615.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "NM_173615.5",
"protein_id": "NP_775886.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1184,
"cds_start": 395,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389398.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173615.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "ENST00000389398.10",
"protein_id": "ENSP00000374049.5",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 1184,
"cds_start": 395,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173615.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389398.10"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "ENST00000568328.5",
"protein_id": "ENSP00000457770.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 745,
"cds_start": 395,
"cds_end": null,
"cds_length": 2240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568328.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "ENST00000877573.1",
"protein_id": "ENSP00000547632.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1133,
"cds_start": 395,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877573.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_011545742.4",
"protein_id": "XP_011544044.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1247,
"cds_start": 395,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545742.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433627.1",
"protein_id": "XP_047289583.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1229,
"cds_start": 395,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433627.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433629.1",
"protein_id": "XP_047289585.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1226,
"cds_start": 395,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433629.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433630.1",
"protein_id": "XP_047289586.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1223,
"cds_start": 395,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433630.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433631.1",
"protein_id": "XP_047289587.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1208,
"cds_start": 395,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433631.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433632.1",
"protein_id": "XP_047289588.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1202,
"cds_start": 395,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433632.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433633.1",
"protein_id": "XP_047289589.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1196,
"cds_start": 395,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433633.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433634.1",
"protein_id": "XP_047289590.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1148,
"cds_start": 395,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433634.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433635.1",
"protein_id": "XP_047289591.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1071,
"cds_start": 395,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433635.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro",
"transcript": "XM_047433636.1",
"protein_id": "XP_047289592.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 858,
"cds_start": 395,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.-130A>C",
"hgvs_p": null,
"transcript": "ENST00000567131.5",
"protein_id": "ENSP00000457368.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 95,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567131.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.468A>C",
"hgvs_p": null,
"transcript": "ENST00000562340.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000562340.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.589A>C",
"hgvs_p": null,
"transcript": "ENST00000566668.1",
"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": "ENST00000566668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.492A>C",
"hgvs_p": null,
"transcript": "XR_007064855.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007064855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.492A>C",
"hgvs_p": null,
"transcript": "XR_007064856.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007064856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.492A>C",
"hgvs_p": null,
"transcript": "XR_007064857.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007064857.1"
}
],
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"dbsnp": "rs1222836085",
"frequency_reference_population": 7.1458686e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14587e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1093127429485321,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.886,
"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": 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_173615.5",
"gene_symbol": "VWA3A",
"hgnc_id": 27088,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.395A>C",
"hgvs_p": "p.Gln132Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}