← 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: 5-170795419-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=170795419&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GABRP",
"hgnc_id": 4089,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_014211.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.8654,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8563058376312256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1323,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014211.3",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265294.9",
"protein_coding": true,
"protein_id": "NP_055026.1",
"strand": true,
"transcript": "NM_014211.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1323,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000265294.9",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014211.3",
"protein_coding": true,
"protein_id": "ENSP00000265294.4",
"strand": true,
"transcript": "ENST00000265294.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1323,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000518525.5",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430100.1",
"strand": true,
"transcript": "ENST00000518525.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 521,
"cds_end": null,
"cds_length": 1323,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862231.1",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532290.1",
"strand": true,
"transcript": "ENST00000862231.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 349,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 622,
"cds_end": null,
"cds_length": 1050,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000519598.1",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430772.1",
"strand": true,
"transcript": "ENST00000519598.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 644,
"cds_end": null,
"cds_length": 870,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001291985.2",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278914.1",
"strand": true,
"transcript": "NM_001291985.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 644,
"cds_end": null,
"cds_length": 870,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000519385.5",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430727.1",
"strand": true,
"transcript": "ENST00000519385.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 188,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 700,
"cdna_start": 584,
"cds_end": null,
"cds_length": 568,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000522868.5",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430188.1",
"strand": true,
"transcript": "ENST00000522868.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 170,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": 659,
"cds_end": null,
"cds_length": 514,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000521481.5",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428804.1",
"strand": true,
"transcript": "ENST00000521481.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3354,
"cdna_start": 694,
"cds_end": null,
"cds_length": 1323,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024446012.2",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024301780.1",
"strand": true,
"transcript": "XM_024446012.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "A",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1086,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005265872.2",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265929.1",
"strand": true,
"transcript": "XM_005265872.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 91,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 456,
"cdna_start": null,
"cds_end": null,
"cds_length": 277,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521009.5",
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"hgvs_c": "c.*175C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428103.1",
"strand": true,
"transcript": "ENST00000521009.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs80121803",
"effect": "missense_variant",
"frequency_reference_population": 0.0000018592775,
"gene_hgnc_id": 4089,
"gene_symbol": "GABRP",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136853,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.0000065741,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.02,
"pos": 170795419,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.711,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_014211.3"
}
]
}