← Back to variant description
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: 18-24170380-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24170380&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OSBPL1A",
"hgnc_id": 16398,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Ala789Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_080597.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "RNA5SP452",
"hgnc_id": 43352,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000363004.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 203,
"alphamissense_prediction": null,
"alphamissense_score": 0.069,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.015627741813659668,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_080597.4",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Ala789Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319481.8",
"protein_coding": true,
"protein_id": "NP_542164.2",
"strand": false,
"transcript": "NM_080597.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000319481.8",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Ala789Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080597.4",
"protein_coding": true,
"protein_id": "ENSP00000320291.3",
"strand": false,
"transcript": "ENST00000319481.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1314,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000399443.7",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382372.3",
"strand": false,
"transcript": "ENST00000399443.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000880335.1",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Ala789Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550394.1",
"strand": false,
"transcript": "ENST00000880335.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000880336.1",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Ala789Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550395.1",
"strand": false,
"transcript": "ENST00000880336.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 944,
"aa_ref": "A",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3073,
"cdna_start": 2495,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2347,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000967954.1",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Ala783Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638013.1",
"strand": false,
"transcript": "ENST00000967954.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 568,
"aa_ref": "A",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001242508.1",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229437.1",
"strand": false,
"transcript": "NM_001242508.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 568,
"aa_ref": "A",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000357041.8",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349545.4",
"strand": false,
"transcript": "ENST00000357041.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1314,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_018030.4",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060500.3",
"strand": false,
"transcript": "NM_018030.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 285,
"aa_ref": "A",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": 370,
"cds_end": null,
"cds_length": 858,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000578013.1",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464617.1",
"strand": false,
"transcript": "ENST00000578013.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 968,
"aa_ref": "A",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017025530.2",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Ala807Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881019.1",
"strand": false,
"transcript": "XM_017025530.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1158,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047437287.1",
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293243.1",
"strand": false,
"transcript": "XM_047437287.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 119,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000363004.1",
"gene_hgnc_id": 43352,
"gene_symbol": "RNA5SP452",
"hgvs_c": "n.*125G>A",
"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": "ENST00000363004.1",
"transcript_support_level": 6
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146787158",
"effect": "missense_variant",
"frequency_reference_population": 0.00012577821,
"gene_hgnc_id": 16398,
"gene_symbol": "OSBPL1A",
"gnomad_exomes_ac": 173,
"gnomad_exomes_af": 0.000118346,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 30,
"gnomad_genomes_af": 0.000197197,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.345,
"pos": 24170380,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.138,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_080597.4"
}
]
}