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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: 8-22994607-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22994607&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22994607,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001160036.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000519685.5",
"protein_id": "ENSP00000427926.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_001160036.2",
"protein_id": "NP_001153508.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 5429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000524077.5",
"protein_id": "ENSP00000430785.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 181,
"cds_start": 24,
"cds_end": null,
"cds_length": 548,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047421607.1",
"protein_id": "XP_047277563.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047421608.1",
"protein_id": "XP_047277564.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047421609.1",
"protein_id": "XP_047277565.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047421610.1",
"protein_id": "XP_047277566.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047421611.1",
"protein_id": "XP_047277567.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 749,
"cds_start": 24,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "n.131C>G",
"hgvs_p": null,
"transcript": "ENST00000518534.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 402,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PEBP4",
"gene_hgnc_id": 28319,
"hgvs_c": "c.144+5072G>C",
"hgvs_p": null,
"transcript": "ENST00000522278.1",
"protein_id": "ENSP00000429414.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 459,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000245025",
"gene_hgnc_id": 58239,
"hgvs_c": "n.149-9689G>C",
"hgvs_p": null,
"transcript": "ENST00000523884.1",
"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": 471,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2-AS1",
"gene_hgnc_id": 58239,
"hgvs_c": "n.127+5072G>C",
"hgvs_p": null,
"transcript": "XR_007060857.1",
"protein_id": null,
"transcript_support_level": null,
"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": 334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"dbsnp": "rs775190503",
"frequency_reference_population": 7.146543e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14654e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.061,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001160036.2",
"gene_symbol": "RHOBTB2",
"hgnc_id": 18756,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.24C>G",
"hgvs_p": "p.Pro8Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000523884.1",
"gene_symbol": "ENSG00000245025",
"hgnc_id": 58239,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-9689G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007060857.1",
"gene_symbol": "RHOBTB2-AS1",
"hgnc_id": 58239,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127+5072G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000522278.1",
"gene_symbol": "PEBP4",
"hgnc_id": 28319,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.144+5072G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}