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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: 16-22115423-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=22115423&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 22115423,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173615.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe",
"transcript": "NM_173615.5",
"protein_id": "NP_775886.3",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1184,
"cds_start": 766,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": "ENST00000389398.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173615.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe",
"transcript": "ENST00000389398.10",
"protein_id": "ENSP00000374049.5",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 1184,
"cds_start": 766,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": "NM_173615.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389398.10"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe",
"transcript": "ENST00000568328.5",
"protein_id": "ENSP00000457770.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 745,
"cds_start": 766,
"cds_end": null,
"cds_length": 2240,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568328.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe",
"transcript": "ENST00000877573.1",
"protein_id": "ENSP00000547632.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1133,
"cds_start": 766,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877573.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_011545742.4",
"protein_id": "XP_011544044.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1247,
"cds_start": 820,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545742.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe",
"transcript": "XM_047433627.1",
"protein_id": "XP_047289583.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1229,
"cds_start": 766,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433627.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433629.1",
"protein_id": "XP_047289585.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1226,
"cds_start": 820,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433629.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433630.1",
"protein_id": "XP_047289586.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1223,
"cds_start": 820,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433630.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe",
"transcript": "XM_047433631.1",
"protein_id": "XP_047289587.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1208,
"cds_start": 766,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433631.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433632.1",
"protein_id": "XP_047289588.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1202,
"cds_start": 820,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433632.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433633.1",
"protein_id": "XP_047289589.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1196,
"cds_start": 820,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433633.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433634.1",
"protein_id": "XP_047289590.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1148,
"cds_start": 820,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433634.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433635.1",
"protein_id": "XP_047289591.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1071,
"cds_start": 820,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433635.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "c.820A>T",
"hgvs_p": "p.Ile274Phe",
"transcript": "XM_047433636.1",
"protein_id": "XP_047289592.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 858,
"cds_start": 820,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433636.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.960A>T",
"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": 2379,
"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": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.917A>T",
"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": 3133,
"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": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.917A>T",
"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": 3175,
"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": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"hgvs_c": "n.917A>T",
"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": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064857.1"
}
],
"gene_symbol": "VWA3A",
"gene_hgnc_id": 27088,
"dbsnp": "rs770796122",
"frequency_reference_population": 0.000021999145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000219991,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15343216061592102,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.1523,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.397,
"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_173615.5",
"gene_symbol": "VWA3A",
"hgnc_id": 27088,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.766A>T",
"hgvs_p": "p.Ile256Phe"
}
],
"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
}