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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: 14-99174329-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99174329&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99174329,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000357195.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2507G>C",
"hgvs_p": "p.Ser836Thr",
"transcript": "NM_138576.4",
"protein_id": "NP_612808.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 894,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 8528,
"mane_select": "ENST00000357195.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2507G>C",
"hgvs_p": "p.Ser836Thr",
"transcript": "ENST00000357195.8",
"protein_id": "ENSP00000349723.3",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 894,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 8528,
"mane_select": "NM_138576.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Ser765Thr",
"transcript": "ENST00000345514.2",
"protein_id": "ENSP00000280435.6",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 823,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2504G>C",
"hgvs_p": "p.Ser835Thr",
"transcript": "NM_001282237.2",
"protein_id": "NP_001269166.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 893,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 8525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Ser765Thr",
"transcript": "NM_022898.3",
"protein_id": "NP_075049.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 823,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2291G>C",
"hgvs_p": "p.Ser764Thr",
"transcript": "NM_001282238.2",
"protein_id": "NP_001269167.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 822,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 8312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.1925G>C",
"hgvs_p": "p.Ser642Thr",
"transcript": "ENST00000443726.2",
"protein_id": "ENSP00000387419.2",
"transcript_support_level": 5,
"aa_start": 642,
"aa_end": null,
"aa_length": 700,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2369G>C",
"hgvs_p": "p.Ser790Thr",
"transcript": "XM_047431707.1",
"protein_id": "XP_047287663.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 848,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 7528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"hgvs_c": "c.2138G>C",
"hgvs_p": "p.Ser713Thr",
"transcript": "XM_047431708.1",
"protein_id": "XP_047287664.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 771,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 8159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"dbsnp": "rs2139752892",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5970814824104309,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.231,
"revel_prediction": "Benign",
"alphamissense_score": 0.9579,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.582,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357195.8",
"gene_symbol": "BCL11B",
"hgnc_id": 13222,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2507G>C",
"hgvs_p": "p.Ser836Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}