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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: 18-24170442-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24170442&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 24170442,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_080597.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.2303T>C",
"hgvs_p": "p.Leu768Pro",
"transcript": "NM_080597.4",
"protein_id": "NP_542164.2",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 950,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319481.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080597.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.2303T>C",
"hgvs_p": "p.Leu768Pro",
"transcript": "ENST00000319481.8",
"protein_id": "ENSP00000320291.3",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 950,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080597.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319481.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "ENST00000399443.7",
"protein_id": "ENSP00000382372.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 437,
"cds_start": 764,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399443.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.2303T>C",
"hgvs_p": "p.Leu768Pro",
"transcript": "ENST00000880335.1",
"protein_id": "ENSP00000550394.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 950,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880335.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.2303T>C",
"hgvs_p": "p.Leu768Pro",
"transcript": "ENST00000880336.1",
"protein_id": "ENSP00000550395.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 950,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880336.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.2285T>C",
"hgvs_p": "p.Leu762Pro",
"transcript": "ENST00000967954.1",
"protein_id": "ENSP00000638013.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 944,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967954.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.1157T>C",
"hgvs_p": "p.Leu386Pro",
"transcript": "NM_001242508.1",
"protein_id": "NP_001229437.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 568,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242508.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.1157T>C",
"hgvs_p": "p.Leu386Pro",
"transcript": "ENST00000357041.8",
"protein_id": "ENSP00000349545.4",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 568,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357041.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Leu255Pro",
"transcript": "NM_018030.4",
"protein_id": "NP_060500.3",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 437,
"cds_start": 764,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018030.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.308T>C",
"hgvs_p": "p.Leu103Pro",
"transcript": "ENST00000578013.1",
"protein_id": "ENSP00000464617.1",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 285,
"cds_start": 308,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578013.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.2357T>C",
"hgvs_p": "p.Leu786Pro",
"transcript": "XM_017025530.2",
"protein_id": "XP_016881019.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 968,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025530.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Leu203Pro",
"transcript": "XM_047437287.1",
"protein_id": "XP_047293243.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 385,
"cds_start": 608,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437287.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNA5SP452",
"gene_hgnc_id": 43352,
"hgvs_c": "n.*63T>C",
"hgvs_p": null,
"transcript": "ENST00000363004.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000363004.1"
}
],
"gene_symbol": "OSBPL1A",
"gene_hgnc_id": 16398,
"dbsnp": null,
"frequency_reference_population": 6.8409094e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84091e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.879184901714325,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.549,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7498,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.318,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080597.4",
"gene_symbol": "OSBPL1A",
"hgnc_id": 16398,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2303T>C",
"hgvs_p": "p.Leu768Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000363004.1",
"gene_symbol": "RNA5SP452",
"hgnc_id": 43352,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*63T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}