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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: 19-41422747-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41422747&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41422747,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000709.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Phe324Phe",
"transcript": "NM_000709.4",
"protein_id": "NP_000700.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 445,
"cds_start": 972,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269980.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000709.4"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Phe324Phe",
"transcript": "ENST00000269980.7",
"protein_id": "ENSP00000269980.2",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 445,
"cds_start": 972,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000709.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269980.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255730",
"gene_hgnc_id": null,
"hgvs_c": "c.1074C>T",
"hgvs_p": "p.Phe358Phe",
"transcript": "ENST00000540732.3",
"protein_id": "ENSP00000443246.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 479,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540732.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.1200C>T",
"hgvs_p": "p.Phe400Phe",
"transcript": "ENST00000919033.1",
"protein_id": "ENSP00000589092.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 521,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919033.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Phe324Phe",
"transcript": "ENST00000906426.1",
"protein_id": "ENSP00000576485.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 470,
"cds_start": 972,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906426.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.969C>T",
"hgvs_p": "p.Phe323Phe",
"transcript": "ENST00000906427.1",
"protein_id": "ENSP00000576486.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 469,
"cds_start": 969,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906427.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Phe324Phe",
"transcript": "ENST00000906422.1",
"protein_id": "ENSP00000576481.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 458,
"cds_start": 972,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906422.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"transcript": "ENST00000457836.6",
"protein_id": "ENSP00000416000.2",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 448,
"cds_start": 906,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457836.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.969C>T",
"hgvs_p": "p.Phe323Phe",
"transcript": "NM_001164783.2",
"protein_id": "NP_001158255.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 444,
"cds_start": 969,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164783.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.969C>T",
"hgvs_p": "p.Phe323Phe",
"transcript": "ENST00000906421.1",
"protein_id": "ENSP00000576480.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 444,
"cds_start": 969,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906421.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Phe270Phe",
"transcript": "ENST00000906424.1",
"protein_id": "ENSP00000576483.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 391,
"cds_start": 810,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906424.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.765C>T",
"hgvs_p": "p.Phe255Phe",
"transcript": "ENST00000906423.1",
"protein_id": "ENSP00000576482.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 376,
"cds_start": 765,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906423.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Phe254Phe",
"transcript": "ENST00000967147.1",
"protein_id": "ENSP00000637206.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 375,
"cds_start": 762,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967147.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.705C>T",
"hgvs_p": "p.Phe235Phe",
"transcript": "ENST00000906425.1",
"protein_id": "ENSP00000576484.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 356,
"cds_start": 705,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906425.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Phe295Phe",
"transcript": "ENST00000542943.5",
"protein_id": "ENSP00000440345.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 327,
"cds_start": 885,
"cds_end": null,
"cds_length": 986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542943.5"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.869+103C>T",
"hgvs_p": null,
"transcript": "ENST00000967145.1",
"protein_id": "ENSP00000637204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967145.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "c.407-1755C>T",
"hgvs_p": null,
"transcript": "ENST00000919034.1",
"protein_id": "ENSP00000589093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "n.601C>T",
"hgvs_p": null,
"transcript": "ENST00000535632.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000535632.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"hgvs_c": "n.*13C>T",
"hgvs_p": null,
"transcript": "ENST00000545787.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000545787.1"
}
],
"gene_symbol": "BCKDHA",
"gene_hgnc_id": 986,
"dbsnp": "rs284652",
"frequency_reference_population": 0.610568,
"hom_count_reference_population": 304365,
"allele_count_reference_population": 985066,
"gnomad_exomes_af": 0.605798,
"gnomad_genomes_af": 0.656448,
"gnomad_exomes_ac": 885320,
"gnomad_genomes_ac": 99746,
"gnomad_exomes_homalt": 270570,
"gnomad_genomes_homalt": 33795,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2199999988079071,
"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": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.873,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000709.4",
"gene_symbol": "BCKDHA",
"hgnc_id": 986,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Phe324Phe"
},
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000540732.3",
"gene_symbol": "ENSG00000255730",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1074C>T",
"hgvs_p": "p.Phe358Phe"
}
],
"clinvar_disease": "Maple syrup urine disease,Maple syrup urine disease type 1A,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Maple syrup urine disease|not provided|Maple syrup urine disease type 1A",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}