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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: 2-189778923-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189778923&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189778923,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000392349.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_016467.5",
"protein_id": "NP_057551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "ENST00000392349.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "ENST00000392349.9",
"protein_id": "ENSP00000376160.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "NM_016467.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "ENST00000325795.7",
"protein_id": "ENSP00000326869.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "ENST00000392350.7",
"protein_id": "ENSP00000376161.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_001371385.1",
"protein_id": "NP_001358314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_001371386.1",
"protein_id": "NP_001358315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "ENST00000850615.1",
"protein_id": "ENSP00000520902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_001128150.2",
"protein_id": "NP_001121622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_001371384.1",
"protein_id": "NP_001358313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_001371387.1",
"protein_id": "NP_001358316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "NM_001371388.1",
"protein_id": "NP_001358317.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "ORMDL1",
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"hgvs_c": "c.175-3207A>G",
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"transcript": "ENST00000409519.5",
"protein_id": "ENSP00000386253.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ORMDL1",
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"hgvs_c": "c.175-3207A>G",
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"transcript": "ENST00000442547.5",
"protein_id": "ENSP00000407234.1",
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},
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],
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"gene_symbol": "ORMDL1",
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"hgvs_c": "c.175-3207A>G",
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"transcript": "ENST00000458355.1",
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},
{
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"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "n.253-3207A>G",
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"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "XM_005246970.4",
"protein_id": "XP_005247027.1",
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},
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],
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"gene_symbol": "ORMDL1",
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"hgvs_c": "c.175-3207A>G",
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"transcript": "XM_017005347.2",
"protein_id": "XP_016860836.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "XM_047446425.1",
"protein_id": "XP_047302381.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "XM_047446426.1",
"protein_id": "XP_047302382.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null,
"transcript": "XM_047446427.1",
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"feature": null
}
],
"gene_symbol": "ORMDL1",
"gene_hgnc_id": 16036,
"dbsnp": "rs7606224",
"frequency_reference_population": 0.9814601,
"hom_count_reference_population": 73371,
"allele_count_reference_population": 149390,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.98146,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 149390,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 73371,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"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": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.366,
"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_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000392349.9",
"gene_symbol": "ORMDL1",
"hgnc_id": 16036,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.175-3207A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}