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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: 10-74090041-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74090041&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VCL",
"hgnc_id": 12665,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_014000.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS2",
"acmg_score": -4,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1568,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1W",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21927931904792786,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5497,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 3405,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014000.3",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000211998.10",
"protein_coding": true,
"protein_id": "NP_054706.1",
"strand": true,
"transcript": "NM_014000.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5497,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 3405,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000211998.10",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014000.3",
"protein_coding": true,
"protein_id": "ENSP00000211998.5",
"strand": true,
"transcript": "ENST00000211998.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6489,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 3201,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000372755.7",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361841.3",
"strand": true,
"transcript": "ENST00000372755.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7995,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000623461.3",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "n.3998A>G",
"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": "ENST00000623461.3",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "N",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 3480,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881823.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Asn424Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551882.1",
"strand": true,
"transcript": "ENST00000881823.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5493,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 3408,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881824.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1198A>G",
"hgvs_p": "p.Asn400Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551883.1",
"strand": true,
"transcript": "ENST00000881824.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 3333,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881826.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551885.1",
"strand": true,
"transcript": "ENST00000881826.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "N",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5180,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 3276,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965705.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Asn424Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635764.1",
"strand": true,
"transcript": "ENST00000965705.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "N",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 3204,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881828.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1198A>G",
"hgvs_p": "p.Asn400Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551887.1",
"strand": true,
"transcript": "ENST00000881828.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 3201,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003373.4",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003364.1",
"strand": true,
"transcript": "NM_003373.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5281,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 3198,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927510.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597569.1",
"strand": true,
"transcript": "ENST00000927510.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5133,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 3051,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927511.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597570.1",
"strand": true,
"transcript": "ENST00000927511.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 998,
"aa_ref": "N",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5080,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 2997,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927509.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Asn399Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597568.1",
"strand": true,
"transcript": "ENST00000927509.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 805,
"aa_ref": "N",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2418,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881825.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Asn138Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551884.1",
"strand": true,
"transcript": "ENST00000881825.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1024,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": null,
"cds_end": null,
"cds_length": 3075,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881827.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.1023-4230A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551886.1",
"strand": true,
"transcript": "ENST00000881827.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 395,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": null,
"cds_end": null,
"cds_length": 1188,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965704.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.391-18978A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635763.1",
"strand": true,
"transcript": "ENST00000965704.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927512.1",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "c.391-18978A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597571.1",
"strand": true,
"transcript": "ENST00000927512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000624354.3",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "n.*950A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485551.1",
"strand": true,
"transcript": "ENST00000624354.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000624354.3",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "n.*950A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485551.1",
"strand": true,
"transcript": "ENST00000624354.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478896.2",
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"hgvs_c": "n.332-11013A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478896.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377228795",
"effect": "missense_variant",
"frequency_reference_population": 0.00003288738,
"gene_hgnc_id": 12665,
"gene_symbol": "VCL",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328874,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Dilated cardiomyopathy 1W|Cardiovascular phenotype",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.583,
"pos": 74090041,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.105,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_014000.3"
}
]
}