← Back to variant description
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: 2-72133031-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=72133031&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP26B1",
"hgnc_id": 20581,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_019885.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1499,
"alphamissense_prediction": null,
"alphamissense_score": 0.3345,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01402747631072998,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 512,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019885.4",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000001146.7",
"protein_coding": true,
"protein_id": "NP_063938.1",
"strand": false,
"transcript": "NM_019885.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 512,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000001146.7",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019885.4",
"protein_coding": true,
"protein_id": "ENSP00000001146.2",
"strand": false,
"transcript": "ENST00000001146.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 437,
"aa_ref": "E",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1314,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000546307.5",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443304.1",
"strand": false,
"transcript": "ENST00000546307.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 321,
"aa_ref": "E",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 790,
"cds_end": null,
"cds_length": 966,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000412253.1",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401465.1",
"strand": false,
"transcript": "ENST00000412253.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 437,
"aa_ref": "E",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1314,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001277742.2",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264671.1",
"strand": false,
"transcript": "NM_001277742.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1365,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005264433.5",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264490.1",
"strand": false,
"transcript": "XM_005264433.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 406,
"aa_ref": "E",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4505,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1221,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047445119.1",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Glu274Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301075.1",
"strand": false,
"transcript": "XM_047445119.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 321,
"aa_ref": "E",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 966,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011532988.2",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531290.1",
"strand": false,
"transcript": "XM_011532988.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 321,
"aa_ref": "E",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 950,
"cds_end": null,
"cds_length": 966,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047445120.1",
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301076.1",
"strand": false,
"transcript": "XM_047445120.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2286965",
"effect": "missense_variant",
"frequency_reference_population": 0.0009292067,
"gene_hgnc_id": 20581,
"gene_symbol": "CYP26B1",
"gnomad_exomes_ac": 1371,
"gnomad_exomes_af": 0.000938493,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_ac": 128,
"gnomad_genomes_af": 0.00084016,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 32,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.151,
"pos": 72133031,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.362,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_019885.4"
}
]
}