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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: 12-117232109-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=117232109&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 117232109,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000317775.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Asp1086Asp",
"transcript": "NM_000620.5",
"protein_id": "NP_000611.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 3793,
"cdna_end": null,
"cdna_length": 12007,
"mane_select": "ENST00000317775.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Asp1086Asp",
"transcript": "ENST00000317775.11",
"protein_id": "ENSP00000320758.6",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3258,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 3793,
"cdna_end": null,
"cdna_length": 12007,
"mane_select": "NM_000620.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.3360C>T",
"hgvs_p": "p.Asp1120Asp",
"transcript": "NM_001204218.2",
"protein_id": "NP_001191147.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1468,
"cds_start": 3360,
"cds_end": null,
"cds_length": 4407,
"cdna_start": 3895,
"cdna_end": null,
"cdna_length": 12109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.3360C>T",
"hgvs_p": "p.Asp1120Asp",
"transcript": "ENST00000338101.8",
"protein_id": "ENSP00000337459.4",
"transcript_support_level": 5,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1468,
"cds_start": 3360,
"cds_end": null,
"cds_length": 4407,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.3360C>T",
"hgvs_p": "p.Asp1120Asp",
"transcript": "ENST00000618760.4",
"protein_id": "ENSP00000477999.1",
"transcript_support_level": 5,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1468,
"cds_start": 3360,
"cds_end": null,
"cds_length": 4407,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 12283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Asp750Asp",
"transcript": "NM_001204213.2",
"protein_id": "NP_001191142.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2250,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 10775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Asp750Asp",
"transcript": "NM_001204214.2",
"protein_id": "NP_001191143.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2250,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 10770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOS1",
"gene_hgnc_id": 7872,
"dbsnp": "rs3741475",
"frequency_reference_population": 0.21057387,
"hom_count_reference_population": 36971,
"allele_count_reference_population": 339328,
"gnomad_exomes_af": 0.208905,
"gnomad_genomes_af": 0.226597,
"gnomad_exomes_ac": 304892,
"gnomad_genomes_ac": 34436,
"gnomad_exomes_homalt": 32851,
"gnomad_genomes_homalt": 4120,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.259,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000317775.11",
"gene_symbol": "NOS1",
"hgnc_id": 7872,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Asp1086Asp"
}
],
"clinvar_disease": "NOS1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NOS1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}