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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: 8-142875819-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142875819&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 142875819,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000292427.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "NM_000497.4",
"protein_id": "NP_000488.3",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 503,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "ENST00000292427.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "ENST00000292427.10",
"protein_id": "ENSP00000292427.5",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 503,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "NM_000497.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1227G>A",
"hgvs_p": "p.Gln409Gln",
"transcript": "ENST00000377675.3",
"protein_id": "ENSP00000366903.3",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 574,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "ENST00000517471.5",
"protein_id": "ENSP00000428043.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 437,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln",
"transcript": "NM_001026213.1",
"protein_id": "NP_001021384.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 437,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3337,
"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": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "n.1409G>A",
"hgvs_p": null,
"transcript": "ENST00000314111.4",
"protein_id": null,
"transcript_support_level": 5,
"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": 3726,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GML",
"gene_hgnc_id": 4375,
"hgvs_c": "c.181+34594C>T",
"hgvs_p": null,
"transcript": "ENST00000522728.5",
"protein_id": "ENSP00000430799.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
"cds_end": null,
"cds_length": 355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "ENST00000519285.5",
"protein_id": "ENSP00000430144.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"dbsnp": "rs151335623",
"frequency_reference_population": 0.0015723855,
"hom_count_reference_population": 5,
"allele_count_reference_population": 2538,
"gnomad_exomes_af": 0.00157883,
"gnomad_genomes_af": 0.00151051,
"gnomad_exomes_ac": 2308,
"gnomad_genomes_ac": 230,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"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": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.107,
"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_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000292427.10",
"gene_symbol": "CYP11B1",
"hgnc_id": 2591,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gln338Gln"
},
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000522728.5",
"gene_symbol": "GML",
"hgnc_id": 4375,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.181+34594C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Deficiency of steroid 11-beta-monooxygenase,Glucocorticoid-remediable aldosteronism,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Glucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}