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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: 14-99174379-G-GGTGTGGCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99174379&ref=G&alt=GGTGTGGCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "BCL11B",
"hgnc_id": 13222,
"hgvs_c": "c.2449_2456dupAGCCACAC",
"hgvs_p": "p.Gly820fs",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_138576.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGTGTGGCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " and t-cell abnormalities, dysmorphic facies,Intellectual developmental disorder with speech delay",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 894,
"aa_ref": "T",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8528,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2456,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_138576.4",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2449_2456dupAGCCACAC",
"hgvs_p": "p.Gly820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357195.8",
"protein_coding": true,
"protein_id": "NP_612808.1",
"strand": false,
"transcript": "NM_138576.4",
"transcript_support_level": null
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 894,
"aa_ref": "T",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8528,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2456,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000357195.8",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2449_2456dupAGCCACAC",
"hgvs_p": "p.Gly820fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138576.4",
"protein_coding": true,
"protein_id": "ENSP00000349723.3",
"strand": false,
"transcript": "ENST00000357195.8",
"transcript_support_level": 1
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 823,
"aa_ref": "T",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7603,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2243,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000345514.2",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2236_2243dupAGCCACAC",
"hgvs_p": "p.Gly749fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280435.6",
"strand": false,
"transcript": "ENST00000345514.2",
"transcript_support_level": 1
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 893,
"aa_ref": "T",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8525,
"cdna_start": 3432,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2453,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282237.2",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2446_2453dupAGCCACAC",
"hgvs_p": "p.Gly819fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269166.1",
"strand": false,
"transcript": "NM_001282237.2",
"transcript_support_level": null
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 823,
"aa_ref": "T",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8315,
"cdna_start": 3222,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2243,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_022898.3",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2236_2243dupAGCCACAC",
"hgvs_p": "p.Gly749fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075049.1",
"strand": false,
"transcript": "NM_022898.3",
"transcript_support_level": null
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 822,
"aa_ref": "T",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8312,
"cdna_start": 3219,
"cds_end": null,
"cds_length": 2469,
"cds_start": 2240,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282238.2",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2233_2240dupAGCCACAC",
"hgvs_p": "p.Gly748fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269167.1",
"strand": false,
"transcript": "NM_001282238.2",
"transcript_support_level": null
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 700,
"aa_ref": "T",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1874,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000443726.2",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.1867_1874dupAGCCACAC",
"hgvs_p": "p.Gly626fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387419.2",
"strand": false,
"transcript": "ENST00000443726.2",
"transcript_support_level": 5
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 848,
"aa_ref": "T",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7528,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2318,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047431707.1",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2311_2318dupAGCCACAC",
"hgvs_p": "p.Gly774fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287663.1",
"strand": false,
"transcript": "XM_047431707.1",
"transcript_support_level": null
},
{
"aa_alt": "TAT?",
"aa_end": null,
"aa_length": 771,
"aa_ref": "T",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8159,
"cdna_start": 3066,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2087,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047431708.1",
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"hgvs_c": "c.2080_2087dupAGCCACAC",
"hgvs_p": "p.Gly697fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287664.1",
"strand": false,
"transcript": "XM_047431708.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555376035",
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13222,
"gene_symbol": "BCL11B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.583,
"pos": 99174379,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_138576.4"
}
]
}