← 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: 9-76159037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=76159037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 76159037,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000674117.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "NM_001372043.1",
"protein_id": "NP_001358972.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1887,
"cds_start": 1485,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 10226,
"mane_select": "ENST00000674117.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "ENST00000674117.1",
"protein_id": "ENSP00000500971.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1887,
"cds_start": 1485,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 10226,
"mane_select": "NM_001372043.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "ENST00000376752.9",
"protein_id": "ENSP00000365943.4",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 913,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "NM_001190482.2",
"protein_id": "NP_001177411.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1860,
"cds_start": 1485,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 10145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "ENST00000545128.5",
"protein_id": "ENSP00000446280.1",
"transcript_support_level": 5,
"aa_start": 495,
"aa_end": null,
"aa_length": 1860,
"cds_start": 1485,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 9538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Ser168Ser",
"transcript": "ENST00000424854.6",
"protein_id": "ENSP00000411654.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 1560,
"cds_start": 504,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "NM_006200.6",
"protein_id": "NP_006191.2",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 913,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "XM_011518769.4",
"protein_id": "XP_011517071.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1886,
"cds_start": 1485,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 10223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1200G>A",
"hgvs_p": "p.Ser400Ser",
"transcript": "XM_047423454.1",
"protein_id": "XP_047279410.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1792,
"cds_start": 1200,
"cds_end": null,
"cds_length": 5379,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 9995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Ser49Ser",
"transcript": "XM_011518770.3",
"protein_id": "XP_011517072.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1441,
"cds_start": 147,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 13071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "XM_047423455.1",
"protein_id": "XP_047279411.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 885,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser",
"transcript": "XM_047423456.1",
"protein_id": "XP_047279412.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 814,
"cds_start": 1485,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 3050,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "n.1997G>A",
"hgvs_p": null,
"transcript": "ENST00000376767.7",
"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": 2845,
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"hgvs_c": "n.1890G>A",
"hgvs_p": null,
"transcript": "NR_120409.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCSK5",
"gene_hgnc_id": 8747,
"dbsnp": "rs2297342",
"frequency_reference_population": 0.24962446,
"hom_count_reference_population": 52619,
"allele_count_reference_population": 402822,
"gnomad_exomes_af": 0.251241,
"gnomad_genomes_af": 0.23408,
"gnomad_exomes_ac": 367232,
"gnomad_genomes_ac": 35590,
"gnomad_exomes_homalt": 48174,
"gnomad_genomes_homalt": 4445,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"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": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.315,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000674117.1",
"gene_symbol": "PCSK5",
"hgnc_id": 8747,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Ser495Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}