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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: 11-124123301-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124123301&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124123301,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_014622.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "NM_001130142.2",
"protein_id": "NP_001123614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130142.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000456829.7",
"protein_id": "ENSP00000407726.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130142.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456829.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000392748.5",
"protein_id": "ENSP00000376504.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392748.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000361352.9",
"protein_id": "ENSP00000355070.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
"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": "ENST00000361352.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000449321.5",
"protein_id": "ENSP00000404683.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
"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": "ENST00000449321.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "NM_014622.5",
"protein_id": "NP_055437.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869347.1",
"protein_id": "ENSP00000539406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869351.1",
"protein_id": "ENSP00000539410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869352.1",
"protein_id": "ENSP00000539411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000924261.1",
"protein_id": "ENSP00000594320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924261.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000924263.1",
"protein_id": "ENSP00000594322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924263.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869348.1",
"protein_id": "ENSP00000539407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": null,
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"cds_length": 2292,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869346.1",
"protein_id": "ENSP00000539405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
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"cds_length": 2196,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869346.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869350.1",
"protein_id": "ENSP00000539409.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869350.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "ENST00000924262.1",
"protein_id": "ENSP00000594321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924262.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.532-65T>C",
"hgvs_p": null,
"transcript": "ENST00000869349.1",
"protein_id": "ENSP00000539408.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000869349.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.979-65T>C",
"hgvs_p": null,
"transcript": "ENST00000392744.4",
"protein_id": "ENSP00000376501.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": null,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392744.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.931-65T>C",
"hgvs_p": null,
"transcript": "NM_198315.3",
"protein_id": "NP_938057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198315.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"hgvs_c": "c.979-65T>C",
"hgvs_p": null,
"transcript": "XM_011542828.3",
"protein_id": "XP_011541130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": null,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542828.3"
}
],
"gene_symbol": "VWA5A",
"gene_hgnc_id": 6658,
"dbsnp": "rs880321",
"frequency_reference_population": 0.10030215,
"hom_count_reference_population": 8421,
"allele_count_reference_population": 154627,
"gnomad_exomes_af": 0.102231,
"gnomad_genomes_af": 0.0826925,
"gnomad_exomes_ac": 142045,
"gnomad_genomes_ac": 12582,
"gnomad_exomes_homalt": 7813,
"gnomad_genomes_homalt": 608,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.582,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014622.5",
"gene_symbol": "VWA5A",
"hgnc_id": 6658,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.931-65T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}