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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: X-106900812-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=106900812&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 106900812,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_138382.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPPLY1",
"gene_hgnc_id": 25117,
"hgvs_c": "c.393C>G",
"hgvs_p": "p.Tyr131*",
"transcript": "NM_138382.3",
"protein_id": "NP_612391.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 151,
"cds_start": 393,
"cds_end": null,
"cds_length": 456,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": "ENST00000276173.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138382.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPPLY1",
"gene_hgnc_id": 25117,
"hgvs_c": "c.393C>G",
"hgvs_p": "p.Tyr131*",
"transcript": "ENST00000276173.5",
"protein_id": "ENSP00000276173.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 151,
"cds_start": 393,
"cds_end": null,
"cds_length": 456,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": "NM_138382.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276173.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPPLY1",
"gene_hgnc_id": 25117,
"hgvs_c": "c.252C>G",
"hgvs_p": "p.Tyr84*",
"transcript": "ENST00000411805.1",
"protein_id": "ENSP00000400539.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 104,
"cds_start": 252,
"cds_end": null,
"cds_length": 315,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411805.1"
},
{
"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": "CLDN2",
"gene_hgnc_id": 2041,
"hgvs_c": "c.-179+308G>C",
"hgvs_p": null,
"transcript": "ENST00000541806.6",
"protein_id": "ENSP00000441283.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541806.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPPLY1",
"gene_hgnc_id": 25117,
"hgvs_c": "c.252C>G",
"hgvs_p": "p.Tyr84*",
"transcript": "NM_001171706.2",
"protein_id": "NP_001165177.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 104,
"cds_start": 252,
"cds_end": null,
"cds_length": 315,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171706.2"
},
{
"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": "CLDN2",
"gene_hgnc_id": 2041,
"hgvs_c": "c.-179+308G>C",
"hgvs_p": null,
"transcript": "NM_001171092.1",
"protein_id": "NP_001164563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171092.1"
},
{
"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": "CLDN2",
"gene_hgnc_id": 2041,
"hgvs_c": "c.-179+608G>C",
"hgvs_p": null,
"transcript": "ENST00000899662.1",
"protein_id": "ENSP00000569721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899662.1"
},
{
"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": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.111-85026C>G",
"hgvs_p": null,
"transcript": "ENST00000604604.1",
"protein_id": "ENSP00000474750.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604604.1"
}
],
"gene_symbol": "RIPPLY1",
"gene_hgnc_id": 25117,
"dbsnp": "rs187005190",
"frequency_reference_population": 0.000004960773,
"hom_count_reference_population": 3,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000455425,
"gnomad_genomes_af": 0.00000895945,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.993,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_138382.3",
"gene_symbol": "RIPPLY1",
"hgnc_id": 25117,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.393C>G",
"hgvs_p": "p.Tyr131*"
},
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001171092.1",
"gene_symbol": "CLDN2",
"hgnc_id": 2041,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.-179+308G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000604604.1",
"gene_symbol": "MORC4",
"hgnc_id": 23485,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.111-85026C>G",
"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
}