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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: 16-88810447-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88810447&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88810447,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000378364.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"transcript": "NM_000485.3",
"protein_id": "NP_000476.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 180,
"cds_start": 297,
"cds_end": null,
"cds_length": 543,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 931,
"mane_select": "ENST00000378364.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"transcript": "ENST00000378364.8",
"protein_id": "ENSP00000367615.3",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 180,
"cds_start": 297,
"cds_end": null,
"cds_length": 543,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 931,
"mane_select": "NM_000485.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Ala98Ala",
"transcript": "ENST00000569616.1",
"protein_id": "ENSP00000455692.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 161,
"cds_start": 294,
"cds_end": null,
"cds_length": 486,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"transcript": "ENST00000567713.5",
"protein_id": "ENSP00000455749.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 147,
"cds_start": 297,
"cds_end": null,
"cds_length": 446,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"transcript": "NM_001030018.2",
"protein_id": "NP_001025189.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 134,
"cds_start": 297,
"cds_end": null,
"cds_length": 405,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"transcript": "ENST00000426324.6",
"protein_id": "ENSP00000397007.2",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 134,
"cds_start": 297,
"cds_end": null,
"cds_length": 405,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "c.241-299C>T",
"hgvs_p": null,
"transcript": "ENST00000563655.5",
"protein_id": "ENSP00000456012.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "n.332-299C>T",
"hgvs_p": null,
"transcript": "ENST00000562464.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "n.188-299C>T",
"hgvs_p": null,
"transcript": "ENST00000567391.5",
"protein_id": "ENSP00000457964.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "n.188-299C>T",
"hgvs_p": null,
"transcript": "ENST00000568319.5",
"protein_id": "ENSP00000456905.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "n.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000567057.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"hgvs_c": "n.-49C>T",
"hgvs_p": null,
"transcript": "ENST00000568575.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APRT",
"gene_hgnc_id": 626,
"dbsnp": "rs281860262",
"frequency_reference_population": 0.000008904805,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000089048,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.367,
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378364.8",
"gene_symbol": "APRT",
"hgnc_id": 626,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}