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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: 8-18400367-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18400367&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18400367,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000015.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn",
"transcript": "NM_000015.3",
"protein_id": "NP_000006.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 290,
"cds_start": 364,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286479.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000015.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn",
"transcript": "ENST00000286479.4",
"protein_id": "ENSP00000286479.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 290,
"cds_start": 364,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000015.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286479.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn",
"transcript": "ENST00000893781.1",
"protein_id": "ENSP00000563840.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 290,
"cds_start": 364,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893781.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn",
"transcript": "ENST00000893782.1",
"protein_id": "ENSP00000563841.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 290,
"cds_start": 364,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893782.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn",
"transcript": "ENST00000893783.1",
"protein_id": "ENSP00000563842.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 290,
"cds_start": 364,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893783.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn",
"transcript": "XM_017012938.2",
"protein_id": "XP_016868427.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 290,
"cds_start": 364,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012938.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000520116.1",
"protein_id": "ENSP00000428416.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520116.1"
}
],
"gene_symbol": "NAT2",
"gene_hgnc_id": 7646,
"dbsnp": "rs4986996",
"frequency_reference_population": 0.000026046997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000260187,
"gnomad_genomes_af": 0.0000263193,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9725527763366699,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.436,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.512,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.162,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 4,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000015.3",
"gene_symbol": "NAT2",
"hgnc_id": 7646,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Asp122Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}