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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: 10-74105307-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74105307&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 74105307,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014000.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro",
"transcript": "NM_014000.3",
"protein_id": "NP_054706.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2388,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000211998.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014000.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro",
"transcript": "ENST00000211998.10",
"protein_id": "ENSP00000211998.5",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2388,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014000.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000211998.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro",
"transcript": "ENST00000372755.7",
"protein_id": "ENSP00000361841.3",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2388,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372755.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "n.5191G>A",
"hgvs_p": null,
"transcript": "ENST00000623461.3",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000623461.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2463G>A",
"hgvs_p": "p.Pro821Pro",
"transcript": "ENST00000881823.1",
"protein_id": "ENSP00000551882.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2463,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881823.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2391G>A",
"hgvs_p": "p.Pro797Pro",
"transcript": "ENST00000881824.1",
"protein_id": "ENSP00000551883.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2391,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881824.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2520G>A",
"hgvs_p": "p.Pro840Pro",
"transcript": "ENST00000881826.1",
"protein_id": "ENSP00000551885.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2520,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881826.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2463G>A",
"hgvs_p": "p.Pro821Pro",
"transcript": "ENST00000965705.1",
"protein_id": "ENSP00000635764.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2463,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965705.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2391G>A",
"hgvs_p": "p.Pro797Pro",
"transcript": "ENST00000881828.1",
"protein_id": "ENSP00000551887.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2391,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881828.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro",
"transcript": "NM_003373.4",
"protein_id": "NP_003364.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2388,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003373.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro",
"transcript": "ENST00000927510.1",
"protein_id": "ENSP00000597569.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2388,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927510.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Pro686Pro",
"transcript": "ENST00000881827.1",
"protein_id": "ENSP00000551886.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2058,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881827.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2238G>A",
"hgvs_p": "p.Pro746Pro",
"transcript": "ENST00000927511.1",
"protein_id": "ENSP00000597570.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927511.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro",
"transcript": "ENST00000927509.1",
"protein_id": "ENSP00000597568.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 998,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927509.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Pro535Pro",
"transcript": "ENST00000881825.1",
"protein_id": "ENSP00000551884.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 805,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881825.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.391-3712G>A",
"hgvs_p": null,
"transcript": "ENST00000965704.1",
"protein_id": "ENSP00000635763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965704.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "c.391-3712G>A",
"hgvs_p": null,
"transcript": "ENST00000927512.1",
"protein_id": "ENSP00000597571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "n.380G>A",
"hgvs_p": null,
"transcript": "ENST00000472585.1",
"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": "ENST00000472585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "n.*2143G>A",
"hgvs_p": null,
"transcript": "ENST00000624354.3",
"protein_id": "ENSP00000485551.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000624354.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "n.*2143G>A",
"hgvs_p": null,
"transcript": "ENST00000624354.3",
"protein_id": "ENSP00000485551.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000624354.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"hgvs_c": "n.*14G>A",
"hgvs_p": null,
"transcript": "ENST00000478896.2",
"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": "pseudogene",
"feature": "ENST00000478896.2"
}
],
"gene_symbol": "VCL",
"gene_hgnc_id": 12665,
"dbsnp": "rs767809",
"frequency_reference_population": 0.5282928,
"hom_count_reference_population": 236237,
"allele_count_reference_population": 851963,
"gnomad_exomes_af": 0.538514,
"gnomad_genomes_af": 0.430025,
"gnomad_exomes_ac": 786625,
"gnomad_genomes_ac": 65338,
"gnomad_exomes_homalt": 219223,
"gnomad_genomes_homalt": 17014,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.661,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014000.3",
"gene_symbol": "VCL",
"hgnc_id": 12665,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Pro796Pro"
}
],
"clinvar_disease": "Aganglionic megacolon,Cardiovascular phenotype,Dilated cardiomyopathy 1W,Hypertrophic cardiomyopathy 15,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"phenotype_combined": "not specified|Cardiovascular phenotype|Dilated cardiomyopathy 1W|Aganglionic megacolon|not provided|Hypertrophic cardiomyopathy 15",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}