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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: 16-89709254-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89709254&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89709254,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004913.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1570T>C",
"hgvs_p": "p.Cys524Arg",
"transcript": "NM_004913.3",
"protein_id": "NP_004904.2",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 631,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "ENST00000389386.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1570T>C",
"hgvs_p": "p.Cys524Arg",
"transcript": "ENST00000389386.8",
"protein_id": "ENSP00000374037.3",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 631,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "NM_004913.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Cys454Arg",
"transcript": "ENST00000561976.5",
"protein_id": "ENSP00000454244.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 561,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Cys124Arg",
"transcript": "ENST00000565023.1",
"protein_id": "ENSP00000455792.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 231,
"cds_start": 370,
"cds_end": null,
"cds_length": 696,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1612T>C",
"hgvs_p": "p.Cys538Arg",
"transcript": "XM_047434930.1",
"protein_id": "XP_047290886.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 645,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Cys537Arg",
"transcript": "XM_047434931.1",
"protein_id": "XP_047290887.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 644,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1573T>C",
"hgvs_p": "p.Cys525Arg",
"transcript": "XM_005256329.6",
"protein_id": "XP_005256386.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 632,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1570T>C",
"hgvs_p": "p.Cys524Arg",
"transcript": "XM_011523476.4",
"protein_id": "XP_011521778.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 631,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1567T>C",
"hgvs_p": "p.Cys523Arg",
"transcript": "XM_047434932.1",
"protein_id": "XP_047290888.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 630,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1510T>C",
"hgvs_p": "p.Cys504Arg",
"transcript": "XM_047434933.1",
"protein_id": "XP_047290889.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 611,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1507T>C",
"hgvs_p": "p.Cys503Arg",
"transcript": "XM_047434934.1",
"protein_id": "XP_047290890.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 610,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1612T>C",
"hgvs_p": "p.Cys538Arg",
"transcript": "XM_047434935.1",
"protein_id": "XP_047290891.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 610,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1570T>C",
"hgvs_p": "p.Cys524Arg",
"transcript": "XM_047434936.1",
"protein_id": "XP_047290892.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 596,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"hgvs_c": "c.1402T>C",
"hgvs_p": "p.Cys468Arg",
"transcript": "XM_047434937.1",
"protein_id": "XP_047290893.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 575,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS9D1",
"gene_hgnc_id": 13526,
"dbsnp": "rs767333609",
"frequency_reference_population": 0.00007262174,
"hom_count_reference_population": 0,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000726217,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 106,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8875642418861389,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.583,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.232,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004913.3",
"gene_symbol": "VPS9D1",
"hgnc_id": 13526,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1570T>C",
"hgvs_p": "p.Cys524Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}