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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: 15-50242574-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50242574&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50242574,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002112.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1675G>T",
"hgvs_p": "p.Asp559Tyr",
"transcript": "NM_002112.4",
"protein_id": "NP_002103.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 662,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": "ENST00000267845.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002112.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1675G>T",
"hgvs_p": "p.Asp559Tyr",
"transcript": "ENST00000267845.8",
"protein_id": "ENSP00000267845.3",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 662,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": "NM_002112.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267845.8"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Asp526Tyr",
"transcript": "ENST00000543581.5",
"protein_id": "ENSP00000440252.1",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 629,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543581.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1780G>T",
"hgvs_p": "p.Asp594Tyr",
"transcript": "ENST00000860523.1",
"protein_id": "ENSP00000530582.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 697,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860523.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Asp526Tyr",
"transcript": "NM_001306146.2",
"protein_id": "NP_001293075.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 629,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306146.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1438G>T",
"hgvs_p": "p.Asp480Tyr",
"transcript": "ENST00000860524.1",
"protein_id": "ENSP00000530583.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 583,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860524.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1780G>T",
"hgvs_p": "p.Asp594Tyr",
"transcript": "XM_017022094.2",
"protein_id": "XP_016877583.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 697,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022094.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1681G>T",
"hgvs_p": "p.Asp561Tyr",
"transcript": "XM_017022095.2",
"protein_id": "XP_016877584.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 664,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022095.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1543G>T",
"hgvs_p": "p.Asp515Tyr",
"transcript": "XM_017022097.2",
"protein_id": "XP_016877586.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 618,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022097.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "c.1348G>T",
"hgvs_p": "p.Asp450Tyr",
"transcript": "XM_017022098.2",
"protein_id": "XP_016877587.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 553,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022098.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"hgvs_c": "n.1419G>T",
"hgvs_p": null,
"transcript": "ENST00000559816.1",
"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": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559816.1"
}
],
"gene_symbol": "HDC",
"gene_hgnc_id": 4855,
"dbsnp": "rs775075139",
"frequency_reference_population": 0.00007929851,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000848216,
"gnomad_genomes_af": 0.0000262705,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04867890477180481,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.531,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002112.4",
"gene_symbol": "HDC",
"hgnc_id": 4855,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1675G>T",
"hgvs_p": "p.Asp559Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}