← 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: 17-44007720-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44007720&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44007720,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000293404.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Arg466Arg",
"transcript": "NM_153006.3",
"protein_id": "NP_694551.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 534,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": "ENST00000293404.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Arg466Arg",
"transcript": "ENST00000293404.8",
"protein_id": "ENSP00000293404.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 534,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": "NM_153006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Arg443Arg",
"transcript": "ENST00000589767.1",
"protein_id": "ENSP00000465408.1",
"transcript_support_level": 2,
"aa_start": 443,
"aa_end": null,
"aa_length": 511,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Arg300Arg",
"transcript": "XM_011524439.2",
"protein_id": "XP_011522741.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 368,
"cds_start": 900,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"hgvs_c": "n.1286G>A",
"hgvs_p": null,
"transcript": "ENST00000592915.1",
"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": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"hgvs_c": "c.1268+226G>A",
"hgvs_p": null,
"transcript": "XM_011524438.2",
"protein_id": "XP_011522740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAGS",
"gene_hgnc_id": 17996,
"dbsnp": "rs369492320",
"frequency_reference_population": 0.00030665152,
"hom_count_reference_population": 5,
"allele_count_reference_population": 491,
"gnomad_exomes_af": 0.000320815,
"gnomad_genomes_af": 0.000171352,
"gnomad_exomes_ac": 465,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.93,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000293404.8",
"gene_symbol": "NAGS",
"hgnc_id": 17996,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Arg466Arg"
}
],
"clinvar_disease": " type III,Hyperammonemia,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Hyperammonemia, type III|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}