← 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: 16-83965394-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=83965394&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 83965394,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393306.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN1",
"gene_hgnc_id": 30093,
"hgvs_c": "c.821C>A",
"hgvs_p": "p.Ala274Asp",
"transcript": "NM_182981.3",
"protein_id": "NP_892026.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 477,
"cds_start": 821,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": "ENST00000393306.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN1",
"gene_hgnc_id": 30093,
"hgvs_c": "c.821C>A",
"hgvs_p": "p.Ala274Asp",
"transcript": "ENST00000393306.6",
"protein_id": "ENSP00000376983.1",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 477,
"cds_start": 821,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": "NM_182981.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN1",
"gene_hgnc_id": 30093,
"hgvs_c": "c.821C>A",
"hgvs_p": "p.Ala274Asp",
"transcript": "ENST00000361711.7",
"protein_id": "ENSP00000355374.3",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 477,
"cds_start": 821,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2230,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN1",
"gene_hgnc_id": 30093,
"hgvs_c": "n.1453C>A",
"hgvs_p": null,
"transcript": "ENST00000343939.6",
"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": 2391,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NECAB2",
"gene_hgnc_id": 23746,
"hgvs_c": "c.-23+158C>A",
"hgvs_p": null,
"transcript": "XM_047434240.1",
"protein_id": "XP_047290196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSGIN1",
"gene_hgnc_id": 30093,
"dbsnp": "rs750515212",
"frequency_reference_population": 7.030183e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.03018e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21273541450500488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.1002,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000393306.6",
"gene_symbol": "OSGIN1",
"hgnc_id": 30093,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821C>A",
"hgvs_p": "p.Ala274Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_047434240.1",
"gene_symbol": "NECAB2",
"hgnc_id": 23746,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-23+158C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}