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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: 16-82068344-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=82068344&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 82068344,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002153.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "NM_002153.3",
"protein_id": "NP_002144.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 387,
"cds_start": 440,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000199936.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002153.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000199936.9",
"protein_id": "ENSP00000199936.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 387,
"cds_start": 440,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002153.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000199936.9"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000891334.1",
"protein_id": "ENSP00000561393.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 387,
"cds_start": 440,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891334.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000891335.1",
"protein_id": "ENSP00000561394.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 387,
"cds_start": 440,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891335.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000891338.1",
"protein_id": "ENSP00000561397.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 386,
"cds_start": 440,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891338.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000891336.1",
"protein_id": "ENSP00000561395.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 341,
"cds_start": 440,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891336.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Asp11Ala",
"transcript": "ENST00000568090.5",
"protein_id": "ENSP00000456529.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 219,
"cds_start": 32,
"cds_end": null,
"cds_length": 661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568090.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.224A>C",
"hgvs_p": "p.Asp75Ala",
"transcript": "ENST00000569351.2",
"protein_id": "ENSP00000454931.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 200,
"cds_start": 224,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569351.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.68A>C",
"hgvs_p": "p.Asp23Ala",
"transcript": "ENST00000566838.2",
"protein_id": "ENSP00000456471.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 188,
"cds_start": 68,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566838.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Asp11Ala",
"transcript": "ENST00000563491.5",
"protein_id": "ENSP00000455992.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 65,
"cds_start": 32,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563491.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "XM_047434049.1",
"protein_id": "XP_047290005.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 226,
"cds_start": 440,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434049.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.266-22558A>C",
"hgvs_p": null,
"transcript": "ENST00000891337.1",
"protein_id": "ENSP00000561396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891337.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"hgvs_c": "c.266-2598A>C",
"hgvs_p": null,
"transcript": "ENST00000566213.1",
"protein_id": "ENSP00000457943.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSD17B2-AS1",
"gene_hgnc_id": 56281,
"hgvs_c": "n.430+2459T>G",
"hgvs_p": null,
"transcript": "ENST00000567021.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000567021.2"
}
],
"gene_symbol": "HSD17B2",
"gene_hgnc_id": 5211,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20551684498786926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.0993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.325,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002153.3",
"gene_symbol": "HSD17B2",
"hgnc_id": 5211,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000567021.2",
"gene_symbol": "HSD17B2-AS1",
"hgnc_id": 56281,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.430+2459T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}