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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: 12-57764775-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57764775&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57764775,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000228606.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Leu314Leu",
"transcript": "NM_000785.4",
"protein_id": "NP_000776.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 508,
"cds_start": 942,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": "ENST00000228606.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Leu314Leu",
"transcript": "ENST00000228606.9",
"protein_id": "ENSP00000228606.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 508,
"cds_start": 942,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": "NM_000785.4",
"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": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.742G>A",
"hgvs_p": null,
"transcript": "ENST00000547451.1",
"protein_id": null,
"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": 973,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000713545.1",
"protein_id": "ENSP00000518841.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 350,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2430,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "ENST00000718428.1",
"protein_id": "ENSP00000520812.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 347,
"cds_start": 991,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2545,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Ala182Thr",
"transcript": "ENST00000546567.6",
"protein_id": "ENSP00000520828.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 198,
"cds_start": 544,
"cds_end": null,
"cds_length": 597,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Leu341Leu",
"transcript": "ENST00000713544.1",
"protein_id": "ENSP00000518840.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 535,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2453,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.1081G>A",
"hgvs_p": null,
"transcript": "ENST00000547344.5",
"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": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.*236G>A",
"hgvs_p": null,
"transcript": "ENST00000546609.2",
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"dbsnp": "rs8176345",
"frequency_reference_population": 0.027772477,
"hom_count_reference_population": 720,
"allele_count_reference_population": 44829,
"gnomad_exomes_af": 0.0284606,
"gnomad_genomes_af": 0.0211661,
"gnomad_exomes_ac": 41606,
"gnomad_genomes_ac": 3223,
"gnomad_exomes_homalt": 671,
"gnomad_genomes_homalt": 49,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.009,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000228606.9",
"gene_symbol": "CYP27B1",
"hgnc_id": 2606,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.942G>A",
"hgvs_p": "p.Leu314Leu"
}
],
"clinvar_disease": " type 1,Vitamin D-dependent rickets,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Vitamin D-dependent rickets, type 1|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}