← 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: 10-114261281-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114261281&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VWA2",
"hgnc_id": 24709,
"hgvs_c": "c.357G>C",
"hgvs_p": "p.Lys119Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001272046.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5466,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7270750403404236,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "K",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5846,
"cdna_start": 683,
"cds_end": null,
"cds_length": 2268,
"cds_start": 357,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001272046.2",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.357G>C",
"hgvs_p": "p.Lys119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392982.8",
"protein_coding": true,
"protein_id": "NP_001258975.1",
"strand": true,
"transcript": "NM_001272046.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "K",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5846,
"cdna_start": 683,
"cds_end": null,
"cds_length": 2268,
"cds_start": 357,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392982.8",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.357G>C",
"hgvs_p": "p.Lys119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001272046.2",
"protein_coding": true,
"protein_id": "ENSP00000376708.3",
"strand": true,
"transcript": "ENST00000392982.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "K",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5799,
"cdna_start": 625,
"cds_end": null,
"cds_length": 2268,
"cds_start": 357,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320804.1",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.357G>C",
"hgvs_p": "p.Lys119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307733.1",
"strand": true,
"transcript": "NM_001320804.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "K",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 688,
"cds_end": null,
"cds_length": 2268,
"cds_start": 357,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892505.1",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.357G>C",
"hgvs_p": "p.Lys119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562564.1",
"strand": true,
"transcript": "ENST00000892505.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "K",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 386,
"cds_end": null,
"cds_length": 2142,
"cds_start": 357,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942547.1",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.357G>C",
"hgvs_p": "p.Lys119Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612606.1",
"strand": true,
"transcript": "ENST00000942547.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 765,
"aa_ref": "K",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5610,
"cdna_start": 436,
"cds_end": null,
"cds_length": 2298,
"cds_start": 387,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017016177.2",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.387G>C",
"hgvs_p": "p.Lys129Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871666.1",
"strand": true,
"transcript": "XM_017016177.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 762,
"aa_ref": "E",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2289,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017016178.2",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Glu85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871667.1",
"strand": true,
"transcript": "XM_017016178.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 761,
"aa_ref": "K",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": 952,
"cds_end": null,
"cds_length": 2286,
"cds_start": 375,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017016179.3",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Lys125Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871668.1",
"strand": true,
"transcript": "XM_017016179.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 758,
"aa_ref": "E",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 358,
"cds_end": null,
"cds_length": 2277,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011539754.3",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.241G>C",
"hgvs_p": "p.Glu81Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538056.1",
"strand": true,
"transcript": "XM_011539754.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 752,
"aa_ref": "E",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5848,
"cdna_start": 549,
"cds_end": null,
"cds_length": 2259,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047425155.1",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Glu75Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281111.1",
"strand": true,
"transcript": "XM_047425155.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 415,
"aa_ref": "K",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 433,
"cds_end": null,
"cds_length": 1248,
"cds_start": 387,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017016181.2",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.387G>C",
"hgvs_p": "p.Lys129Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871670.1",
"strand": true,
"transcript": "XM_017016181.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000603594.2",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "c.-560G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473752.2",
"strand": true,
"transcript": "ENST00000603594.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000298715.8",
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"hgvs_c": "n.607G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000298715.8",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs762498358",
"effect": "missense_variant",
"frequency_reference_population": 0.00000205234,
"gene_hgnc_id": 24709,
"gene_symbol": "VWA2",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205234,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.803,
"pos": 114261281,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.615,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001272046.2"
}
]
}