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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: 12-57765390-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57765390&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57765390,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000228606.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu",
"transcript": "NM_000785.4",
"protein_id": "NP_000776.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 508,
"cds_start": 496,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": "ENST00000228606.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu",
"transcript": "ENST00000228606.9",
"protein_id": "ENSP00000228606.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 508,
"cds_start": 496,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 533,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.296G>C",
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Val193Leu",
"transcript": "ENST00000713544.1",
"protein_id": "ENSP00000518840.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 535,
"cds_start": 577,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Cys185Ser",
"transcript": "ENST00000713545.1",
"protein_id": "ENSP00000518841.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 350,
"cds_start": 554,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Cys182Ser",
"transcript": "ENST00000718428.1",
"protein_id": "ENSP00000520812.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 347,
"cds_start": 545,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Cys33Ser",
"transcript": "ENST00000546567.6",
"protein_id": "ENSP00000520828.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 198,
"cds_start": 98,
"cds_end": null,
"cds_length": 597,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 976,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.408G>C",
"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
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.550G>C",
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.*80G>C",
"hgvs_p": null,
"transcript": "ENST00000546496.1",
"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": 244,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"hgvs_c": "n.*67G>C",
"hgvs_p": null,
"transcript": "ENST00000552186.1",
"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": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP27B1",
"gene_hgnc_id": 2606,
"dbsnp": "rs8176344",
"frequency_reference_population": 0.0058194236,
"hom_count_reference_population": 280,
"allele_count_reference_population": 9389,
"gnomad_exomes_af": 0.00602117,
"gnomad_genomes_af": 0.00388508,
"gnomad_exomes_ac": 8797,
"gnomad_genomes_ac": 592,
"gnomad_exomes_homalt": 263,
"gnomad_genomes_homalt": 17,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00298917293548584,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.1592,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.594,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000228606.9",
"gene_symbol": "CYP27B1",
"hgnc_id": 2606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Val166Leu"
}
],
"clinvar_disease": " type 1, type 1A,Vitamin D-dependent rickets,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Vitamin D-dependent rickets, type 1|not provided|Vitamin D-dependent rickets, type 1A",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}