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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: 12-55819481-CT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55819481&ref=CT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ORMDL2",
"hgnc_id": 16037,
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014182.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000257390",
"hgnc_id": null,
"hgvs_c": "c.972+2519_972+2520delAGinsGC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000546837.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 387,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014182.5",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000243045.10",
"protein_coding": true,
"protein_id": "NP_054901.1",
"strand": true,
"transcript": "NM_014182.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 387,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000243045.10",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014182.5",
"protein_coding": true,
"protein_id": "ENSP00000243045.5",
"strand": true,
"transcript": "ENST00000243045.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546837.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257390",
"hgvs_c": "c.972+2519_972+2520delAGinsGC",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447000.1",
"strand": false,
"transcript": "ENST00000546837.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": 405,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000548974.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448788.1",
"strand": true,
"transcript": "ENST00000548974.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": 507,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851416.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521475.1",
"strand": true,
"transcript": "ENST00000851416.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": 532,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851417.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521476.1",
"strand": true,
"transcript": "ENST00000851417.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": 451,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851418.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521477.1",
"strand": true,
"transcript": "ENST00000851418.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 440,
"cds_end": null,
"cds_length": 462,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920546.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.314_315delCTinsGC",
"hgvs_p": "p.Ser105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590605.1",
"strand": true,
"transcript": "ENST00000920546.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 119,
"aa_ref": "S",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": 295,
"cds_end": null,
"cds_length": 360,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552672.5",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.212_213delCTinsGC",
"hgvs_p": "p.Ser71Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447834.1",
"strand": true,
"transcript": "ENST00000552672.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 65,
"aa_ref": "S",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 438,
"cdna_start": 209,
"cds_end": null,
"cds_length": 198,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550836.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "c.50_51delCTinsGC",
"hgvs_p": "p.Ser17Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449461.1",
"strand": true,
"transcript": "ENST00000550836.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 646,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546813.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257390",
"hgvs_c": "n.*88+757_*88+758delAGinsGC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447649.1",
"strand": false,
"transcript": "ENST00000546813.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000548593.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257390",
"hgvs_c": "n.280-1354_280-1353delAGinsGC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449809.1",
"strand": false,
"transcript": "ENST00000548593.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550124.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257390",
"hgvs_c": "n.250-1354_250-1353delAGinsGC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447077.1",
"strand": false,
"transcript": "ENST00000550124.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552719.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257390",
"hgvs_c": "n.438+2519_438+2520delAGinsGC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000552719.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546645.1",
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"hgvs_c": "n.*61_*62delCTinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000546645.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16037,
"gene_symbol": "ORMDL2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.069,
"pos": 55819481,
"ref": "CT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_014182.5"
}
]
}