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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: 10-95613990-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95613990&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95613990,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000371224.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Ser593Gly",
"transcript": "NM_002860.4",
"protein_id": "NP_002851.2",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 795,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": "ENST00000371224.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Ser593Gly",
"transcript": "ENST00000371224.7",
"protein_id": "ENSP00000360268.2",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 795,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": "NM_002860.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Ser591Gly",
"transcript": "ENST00000371221.3",
"protein_id": "ENSP00000360265.3",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 793,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Ser593Gly",
"transcript": "NM_001323413.2",
"protein_id": "NP_001310342.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 795,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Ser593Gly",
"transcript": "NM_001323414.2",
"protein_id": "NP_001310343.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 795,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Ser591Gly",
"transcript": "NM_001017423.2",
"protein_id": "NP_001017423.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 793,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Ser591Gly",
"transcript": "NM_001323415.2",
"protein_id": "NP_001310344.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 793,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1672A>G",
"hgvs_p": "p.Ser558Gly",
"transcript": "NM_001323417.2",
"protein_id": "NP_001310346.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 760,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ser482Gly",
"transcript": "NM_001323412.2",
"protein_id": "NP_001310341.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 684,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ser482Gly",
"transcript": "NM_001323416.2",
"protein_id": "NP_001310345.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 684,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1438A>G",
"hgvs_p": "p.Ser480Gly",
"transcript": "NM_001323418.2",
"protein_id": "NP_001310347.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 682,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1141A>G",
"hgvs_p": "p.Ser381Gly",
"transcript": "NM_001323419.2",
"protein_id": "NP_001310348.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 583,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "n.393A>G",
"hgvs_p": null,
"transcript": "ENST00000485428.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"dbsnp": "rs1231068982",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4654364585876465,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.614,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371224.7",
"gene_symbol": "ALDH18A1",
"hgnc_id": 9722,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Ser593Gly"
}
],
"clinvar_disease": " autosomal dominant 3,Autosomal dominant spastic paraplegia type 9,Cutis laxa,de Barsy syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cutis laxa, autosomal dominant 3;de Barsy syndrome;Autosomal dominant spastic paraplegia type 9",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}