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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: 9-76197556-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=76197556&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 76197556,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000674117.1",
"consequences": [
{
"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": 38,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2626+7810G>A",
"hgvs_p": null,
"transcript": "NM_001372043.1",
"protein_id": "NP_001358972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10226,
"mane_select": "ENST00000674117.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2626+7810G>A",
"hgvs_p": null,
"transcript": "ENST00000674117.1",
"protein_id": "ENSP00000500971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10226,
"mane_select": "NM_001372043.1",
"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": 37,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2626+7810G>A",
"hgvs_p": null,
"transcript": "NM_001190482.2",
"protein_id": "NP_001177411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10145,
"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": 37,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2626+7810G>A",
"hgvs_p": null,
"transcript": "ENST00000545128.5",
"protein_id": "ENSP00000446280.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9538,
"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": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1645+7810G>A",
"hgvs_p": null,
"transcript": "ENST00000424854.6",
"protein_id": "ENSP00000411654.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4731,
"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": 38,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2626+7810G>A",
"hgvs_p": null,
"transcript": "XM_011518769.4",
"protein_id": "XP_011517071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1886,
"cds_start": -4,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10223,
"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": 38,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2341+7810G>A",
"hgvs_p": null,
"transcript": "XM_047423454.1",
"protein_id": "XP_047279410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1792,
"cds_start": -4,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9995,
"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": 29,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1288+7810G>A",
"hgvs_p": null,
"transcript": "XM_011518770.3",
"protein_id": "XP_011517072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13071,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.2627-476G>A",
"hgvs_p": null,
"transcript": "XM_047423455.1",
"protein_id": "XP_047279411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"dbsnp": "rs11144790",
"frequency_reference_population": 0.1286214,
"hom_count_reference_population": 1609,
"allele_count_reference_population": 19561,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.128621,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19561,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1609,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.655,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000674117.1",
"gene_symbol": "PCSK5",
"hgnc_id": 8747,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2626+7810G>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
}