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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: 11-2164267-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2164267&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2164267,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000360.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly",
"transcript": "NM_000360.4",
"protein_id": "NP_000351.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 497,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "ENST00000352909.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly",
"transcript": "ENST00000352909.8",
"protein_id": "ENSP00000325951.4",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 497,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "NM_000360.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Asp518Gly",
"transcript": "ENST00000381178.5",
"protein_id": "ENSP00000370571.1",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 528,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Asp514Gly",
"transcript": "ENST00000381175.5",
"protein_id": "ENSP00000370567.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 524,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Asp393Gly",
"transcript": "ENST00000333684.9",
"protein_id": "ENSP00000328814.6",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 403,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Asp518Gly",
"transcript": "NM_199292.3",
"protein_id": "NP_954986.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 528,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Asp514Gly",
"transcript": "NM_199293.3",
"protein_id": "NP_954987.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 524,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Asp491Gly",
"transcript": "NM_001440535.1",
"protein_id": "NP_001427464.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 501,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Asp397Gly",
"transcript": "NM_001440536.1",
"protein_id": "NP_001427465.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 407,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Asp393Gly",
"transcript": "NM_001440537.1",
"protein_id": "NP_001427466.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 403,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.175-3544T>C",
"hgvs_p": null,
"transcript": "ENST00000729705.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.226-3544T>C",
"hgvs_p": null,
"transcript": "ENST00000729706.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"dbsnp": "rs773658112",
"frequency_reference_population": 0.000028032668,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000267456,
"gnomad_genomes_af": 0.000039412,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22986656427383423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.664,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000360.4",
"gene_symbol": "TH",
"hgnc_id": 11782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asp487Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000729705.1",
"gene_symbol": "ENSG00000295384",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.175-3544T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive DOPA responsive dystonia,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Autosomal recessive DOPA responsive dystonia|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}