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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: 14-99175341-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99175341&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99175341,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000357195.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1495G>T",
"hgvs_p": "p.Glu499*",
"transcript": "NM_138576.4",
"protein_id": "NP_612808.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 894,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 8528,
"mane_select": "ENST00000357195.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1495G>T",
"hgvs_p": "p.Glu499*",
"transcript": "ENST00000357195.8",
"protein_id": "ENSP00000349723.3",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 894,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 8528,
"mane_select": "NM_138576.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1282G>T",
"hgvs_p": "p.Glu428*",
"transcript": "ENST00000345514.2",
"protein_id": "ENSP00000280435.6",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 823,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1492G>T",
"hgvs_p": "p.Glu498*",
"transcript": "NM_001282237.2",
"protein_id": "NP_001269166.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 893,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 8525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1282G>T",
"hgvs_p": "p.Glu428*",
"transcript": "NM_022898.3",
"protein_id": "NP_075049.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 823,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1279G>T",
"hgvs_p": "p.Glu427*",
"transcript": "NM_001282238.2",
"protein_id": "NP_001269167.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 822,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 8312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.913G>T",
"hgvs_p": "p.Glu305*",
"transcript": "ENST00000443726.2",
"protein_id": "ENSP00000387419.2",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 700,
"cds_start": 913,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1357G>T",
"hgvs_p": "p.Glu453*",
"transcript": "XM_047431707.1",
"protein_id": "XP_047287663.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 848,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 7528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1126G>T",
"hgvs_p": "p.Glu376*",
"transcript": "XM_047431708.1",
"protein_id": "XP_047287664.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 771,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 8159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCL11B",
"gene_hgnc_id": 13222,
"dbsnp": "rs1555376234",
"frequency_reference_population": 7.1204073e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.12041e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"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": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.239,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000357195.8",
"gene_symbol": "BCL11B",
"hgnc_id": 13222,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1495G>T",
"hgvs_p": "p.Glu499*"
}
],
"clinvar_disease": " and t-cell abnormalities, dysmorphic facies,Intellectual developmental disorder with speech delay",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}