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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: 10-95621169-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95621169&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95621169,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000371224.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Ile443Ile",
"transcript": "NM_002860.4",
"protein_id": "NP_002851.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 795,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": "ENST00000371224.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Ile443Ile",
"transcript": "ENST00000371224.7",
"protein_id": "ENSP00000360268.2",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 795,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": "NM_002860.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ile441Ile",
"transcript": "ENST00000371221.3",
"protein_id": "ENSP00000360265.3",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 793,
"cds_start": 1323,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Ile443Ile",
"transcript": "NM_001323413.2",
"protein_id": "NP_001310342.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 795,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Ile443Ile",
"transcript": "NM_001323414.2",
"protein_id": "NP_001310343.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 795,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ile441Ile",
"transcript": "NM_001017423.2",
"protein_id": "NP_001017423.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 793,
"cds_start": 1323,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ile441Ile",
"transcript": "NM_001323415.2",
"protein_id": "NP_001310344.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 793,
"cds_start": 1323,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1224C>T",
"hgvs_p": "p.Ile408Ile",
"transcript": "NM_001323417.2",
"protein_id": "NP_001310346.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 760,
"cds_start": 1224,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Ile332Ile",
"transcript": "NM_001323412.2",
"protein_id": "NP_001310341.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 684,
"cds_start": 996,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Ile332Ile",
"transcript": "NM_001323416.2",
"protein_id": "NP_001310345.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 684,
"cds_start": 996,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.990C>T",
"hgvs_p": "p.Ile330Ile",
"transcript": "NM_001323418.2",
"protein_id": "NP_001310347.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 682,
"cds_start": 990,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Ile231Ile",
"transcript": "NM_001323419.2",
"protein_id": "NP_001310348.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 583,
"cds_start": 693,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"dbsnp": "rs117709404",
"frequency_reference_population": 0.0017266888,
"hom_count_reference_population": 67,
"allele_count_reference_population": 2787,
"gnomad_exomes_af": 0.00171356,
"gnomad_genomes_af": 0.00185283,
"gnomad_exomes_ac": 2505,
"gnomad_genomes_ac": 282,
"gnomad_exomes_homalt": 63,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"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": "Benign",
"phylop100way_score": -3.303,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371224.7",
"gene_symbol": "ALDH18A1",
"hgnc_id": 9722,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Ile443Ile"
}
],
"clinvar_disease": " autosomal dominant 3,ALDH18A1-related de Barsy syndrome,Autosomal dominant spastic paraplegia type 9,Autosomal recessive complex spastic paraplegia type 9B,Cutis laxa,Hereditary spastic paraplegia,Hereditary spastic paraplegia 9A,de Barsy syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "ALDH18A1-related de Barsy syndrome|not provided|Hereditary spastic paraplegia|Cutis laxa, autosomal dominant 3;Autosomal recessive complex spastic paraplegia type 9B;Hereditary spastic paraplegia 9A;ALDH18A1-related de Barsy syndrome|Cutis laxa, autosomal dominant 3;de Barsy syndrome;Autosomal dominant spastic paraplegia type 9",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}