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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: 12-120516687-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120516687&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120516687,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000288532.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"transcript": "NM_032314.4",
"protein_id": "NP_115690.3",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 327,
"cds_start": 454,
"cds_end": null,
"cds_length": 984,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": "ENST00000288532.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"transcript": "ENST00000288532.11",
"protein_id": "ENSP00000288532.6",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 327,
"cds_start": 454,
"cds_end": null,
"cds_length": 984,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": "NM_032314.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Ala71Thr",
"transcript": "ENST00000552443.5",
"protein_id": "ENSP00000449863.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 212,
"cds_start": 211,
"cds_end": null,
"cds_length": 640,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Ala102Thr",
"transcript": "ENST00000547943.5",
"protein_id": "ENSP00000449874.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 175,
"cds_start": 304,
"cds_end": null,
"cds_length": 528,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Ala71Thr",
"transcript": "ENST00000551769.1",
"protein_id": "ENSP00000450001.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 129,
"cds_start": 211,
"cds_end": null,
"cds_length": 392,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Ala71Thr",
"transcript": "XM_006719639.3",
"protein_id": "XP_006719702.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 246,
"cds_start": 211,
"cds_end": null,
"cds_length": 741,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "c.352+5527G>A",
"hgvs_p": null,
"transcript": "ENST00000445328.6",
"protein_id": "ENSP00000401798.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"hgvs_c": "n.-3G>A",
"hgvs_p": null,
"transcript": "ENST00000546838.1",
"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": 391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COQ5",
"gene_hgnc_id": 28722,
"dbsnp": "rs3742049",
"frequency_reference_population": 0.11368177,
"hom_count_reference_population": 11549,
"allele_count_reference_population": 183456,
"gnomad_exomes_af": 0.11017,
"gnomad_genomes_af": 0.147438,
"gnomad_exomes_ac": 161033,
"gnomad_genomes_ac": 22423,
"gnomad_exomes_homalt": 9598,
"gnomad_genomes_homalt": 1951,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001625657081604004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.328,
"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": -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": "ENST00000288532.11",
"gene_symbol": "COQ5",
"hgnc_id": 28722,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}