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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: 4-83273598-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83273598&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83273598,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000647002.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Arg147Leu",
"transcript": "NM_001358921.2",
"protein_id": "NP_001345850.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 371,
"cds_start": 440,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": "ENST00000647002.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Arg147Leu",
"transcript": "ENST00000647002.2",
"protein_id": "ENSP00000495761.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 371,
"cds_start": 440,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": "NM_001358921.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.590G>T",
"hgvs_p": "p.Arg197Leu",
"transcript": "ENST00000311469.9",
"protein_id": "ENSP00000310873.4",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 421,
"cds_start": 590,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "n.131G>T",
"hgvs_p": null,
"transcript": "ENST00000503915.5",
"protein_id": "ENSP00000427146.1",
"transcript_support_level": 1,
"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": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.590G>T",
"hgvs_p": "p.Arg197Leu",
"transcript": "NM_015697.9",
"protein_id": "NP_056512.5",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 421,
"cds_start": 590,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Arg147Leu",
"transcript": "ENST00000311461.7",
"protein_id": "ENSP00000311835.7",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 328,
"cds_start": 440,
"cds_end": null,
"cds_length": 987,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "n.440G>T",
"hgvs_p": null,
"transcript": "ENST00000503391.5",
"protein_id": "ENSP00000426242.1",
"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": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "n.352G>T",
"hgvs_p": null,
"transcript": "ENST00000514935.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"dbsnp": "rs121918231",
"frequency_reference_population": 6.8435776e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84358e-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": 0.9886297583580017,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.966,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.677,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000647002.2",
"gene_symbol": "COQ2",
"hgnc_id": 25223,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Arg147Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}