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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: 1-119415452-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119415452&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119415452,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000198.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "NM_000198.4",
"protein_id": "NP_000189.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369416.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000198.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000369416.4",
"protein_id": "ENSP00000358424.3",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000198.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369416.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "NM_001166120.2",
"protein_id": "NP_001159592.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166120.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000543831.5",
"protein_id": "ENSP00000445122.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543831.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000902254.1",
"protein_id": "ENSP00000572313.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902254.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000948746.1",
"protein_id": "ENSP00000618805.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948746.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000948747.1",
"protein_id": "ENSP00000618806.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948747.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000948748.1",
"protein_id": "ENSP00000618807.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 33,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948748.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000948749.1",
"protein_id": "ENSP00000618808.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 317,
"cds_start": 33,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948749.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly",
"transcript": "ENST00000433745.5",
"protein_id": "ENSP00000388292.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 33,
"cds_end": null,
"cds_length": 587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433745.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "n.162A>G",
"hgvs_p": null,
"transcript": "ENST00000443865.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000443865.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"hgvs_c": "n.174A>G",
"hgvs_p": null,
"transcript": "ENST00000471656.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000471656.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307032",
"gene_hgnc_id": null,
"hgvs_c": "n.369T>C",
"hgvs_p": null,
"transcript": "ENST00000823009.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000823009.1"
}
],
"gene_symbol": "HSD3B2",
"gene_hgnc_id": 5218,
"dbsnp": "rs767881300",
"frequency_reference_population": 0.000021687834,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000212085,
"gnomad_genomes_af": 0.0000262933,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000198.4",
"gene_symbol": "HSD3B2",
"hgnc_id": 5218,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.33A>G",
"hgvs_p": "p.Gly11Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000823009.1",
"gene_symbol": "ENSG00000307032",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.369T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}