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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: 22-30695458-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30695458&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30695458,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000332585.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Asp183Glu",
"transcript": "NM_030758.4",
"protein_id": "NP_110385.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 916,
"cds_start": 549,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": "ENST00000332585.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Asp183Glu",
"transcript": "ENST00000332585.11",
"protein_id": "ENSP00000332576.6",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 916,
"cds_start": 549,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": "NM_030758.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Asp183Glu",
"transcript": "ENST00000446658.6",
"protein_id": "ENSP00000392080.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 915,
"cds_start": 549,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Asp183Glu",
"transcript": "NM_001282739.2",
"protein_id": "NP_001269668.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 915,
"cds_start": 549,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.149+1114C>G",
"hgvs_p": null,
"transcript": "NM_001282738.2",
"protein_id": "NP_001269667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.149+1114C>G",
"hgvs_p": null,
"transcript": "ENST00000438716.3",
"protein_id": "ENSP00000411052.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.125+1114C>G",
"hgvs_p": null,
"transcript": "ENST00000407373.5",
"protein_id": "ENSP00000385237.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"hgvs_c": "c.-194+1114C>G",
"hgvs_p": null,
"transcript": "ENST00000403222.7",
"protein_id": "ENSP00000384213.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSBP2",
"gene_hgnc_id": 8504,
"dbsnp": "rs1205343226",
"frequency_reference_population": 0.0000030986268,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000013687,
"gnomad_genomes_af": 0.0000196876,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23295193910598755,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.1727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.008,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000332585.11",
"gene_symbol": "OSBP2",
"hgnc_id": 8504,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Asp183Glu"
}
],
"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
}