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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: 4-83267697-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83267697&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83267697,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000647002.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Ser280Ser",
"transcript": "NM_001358921.2",
"protein_id": "NP_001345850.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 371,
"cds_start": 840,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": "ENST00000647002.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Ser280Ser",
"transcript": "ENST00000647002.2",
"protein_id": "ENSP00000495761.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 371,
"cds_start": 840,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": "NM_001358921.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.990C>T",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000311469.9",
"protein_id": "ENSP00000310873.4",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 421,
"cds_start": 990,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 990,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "n.531C>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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.990C>T",
"hgvs_p": "p.Ser330Ser",
"transcript": "NM_015697.9",
"protein_id": "NP_056512.5",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 421,
"cds_start": 990,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Ser280Ser",
"transcript": "ENST00000311461.7",
"protein_id": "ENSP00000311835.7",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 328,
"cds_start": 840,
"cds_end": null,
"cds_length": 987,
"cdna_start": 841,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "n.*64C>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": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"hgvs_c": "n.*64C>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
}
],
"gene_symbol": "COQ2",
"gene_hgnc_id": 25223,
"dbsnp": "rs1129617",
"frequency_reference_population": 0.2688122,
"hom_count_reference_population": 57871,
"allele_count_reference_population": 417982,
"gnomad_exomes_af": 0.27313,
"gnomad_genomes_af": 0.22897,
"gnomad_exomes_ac": 383173,
"gnomad_genomes_ac": 34809,
"gnomad_exomes_homalt": 53542,
"gnomad_genomes_homalt": 4329,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.249,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000647002.2",
"gene_symbol": "COQ2",
"hgnc_id": 25223,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Ser280Ser"
}
],
"clinvar_disease": " 1, primary,Coenzyme Q10 deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Coenzyme Q10 deficiency, primary, 1|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}