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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: 10-114278756-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114278756&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114278756,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001272046.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Thr246Thr",
"transcript": "NM_001272046.2",
"protein_id": "NP_001258975.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 755,
"cds_start": 738,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392982.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272046.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Thr246Thr",
"transcript": "ENST00000392982.8",
"protein_id": "ENSP00000376708.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 755,
"cds_start": 738,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001272046.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392982.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Thr246Thr",
"transcript": "NM_001320804.1",
"protein_id": "NP_001307733.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 755,
"cds_start": 738,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320804.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Thr246Thr",
"transcript": "ENST00000892505.1",
"protein_id": "ENSP00000562564.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 755,
"cds_start": 738,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892505.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Thr246Thr",
"transcript": "ENST00000942547.1",
"protein_id": "ENSP00000612606.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 713,
"cds_start": 738,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942547.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Thr256Thr",
"transcript": "XM_017016177.2",
"protein_id": "XP_016871666.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 765,
"cds_start": 768,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016177.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Thr253Thr",
"transcript": "XM_017016178.2",
"protein_id": "XP_016871667.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 762,
"cds_start": 759,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016178.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.756G>A",
"hgvs_p": "p.Thr252Thr",
"transcript": "XM_017016179.3",
"protein_id": "XP_016871668.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 761,
"cds_start": 756,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016179.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Thr249Thr",
"transcript": "XM_011539754.3",
"protein_id": "XP_011538056.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 758,
"cds_start": 747,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539754.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Thr243Thr",
"transcript": "XM_047425155.1",
"protein_id": "XP_047281111.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 752,
"cds_start": 729,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425155.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Thr256Thr",
"transcript": "XM_017016181.2",
"protein_id": "XP_016871670.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 415,
"cds_start": 768,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016181.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.-179G>A",
"hgvs_p": null,
"transcript": "ENST00000603594.2",
"protein_id": "ENSP00000473752.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": null,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603594.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "n.988G>A",
"hgvs_p": null,
"transcript": "ENST00000298715.8",
"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": "ENST00000298715.8"
}
],
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"dbsnp": "rs141503948",
"frequency_reference_population": 0.012866189,
"hom_count_reference_population": 170,
"allele_count_reference_population": 20765,
"gnomad_exomes_af": 0.013265,
"gnomad_genomes_af": 0.0090397,
"gnomad_exomes_ac": 19388,
"gnomad_genomes_ac": 1377,
"gnomad_exomes_homalt": 157,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.486,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001272046.2",
"gene_symbol": "VWA2",
"hgnc_id": 24709,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Thr246Thr"
}
],
"clinvar_disease": "VWA2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "VWA2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}