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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: 2-87772230-AAC-TAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=87772230&ref=AAC&alt=TAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RGPD2",
"hgnc_id": 32415,
"hgvs_c": "c.5173_5175delGTTinsATA",
"hgvs_p": "p.Val1725Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001078170.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1756,
"aa_ref": "V",
"aa_start": 1725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6770,
"cdna_start": 5242,
"cds_end": null,
"cds_length": 5271,
"cds_start": 5173,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001078170.3",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "c.5173_5175delGTTinsATA",
"hgvs_p": "p.Val1725Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398146.5",
"protein_coding": true,
"protein_id": "NP_001071638.2",
"strand": false,
"transcript": "NM_001078170.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1756,
"aa_ref": "V",
"aa_start": 1725,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6770,
"cdna_start": 5242,
"cds_end": null,
"cds_length": 5271,
"cds_start": 5173,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398146.5",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "c.5173_5175delGTTinsATA",
"hgvs_p": "p.Val1725Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001078170.3",
"protein_coding": true,
"protein_id": "ENSP00000381214.3",
"strand": false,
"transcript": "ENST00000398146.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "V",
"aa_start": 1724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5470,
"cdna_start": 5260,
"cds_end": null,
"cds_length": 5268,
"cds_start": 5170,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971290.1",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "c.5170_5172delGTTinsATA",
"hgvs_p": "p.Val1724Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641349.1",
"strand": false,
"transcript": "ENST00000971290.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1703,
"aa_ref": "V",
"aa_start": 1672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6609,
"cdna_start": 5083,
"cds_end": null,
"cds_length": 5112,
"cds_start": 5014,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393613.1",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "c.5014_5016delGTTinsATA",
"hgvs_p": "p.Val1672Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380542.1",
"strand": false,
"transcript": "NM_001393613.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "V",
"aa_start": 1803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 5550,
"cds_end": null,
"cds_length": 5505,
"cds_start": 5407,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004845.2",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "c.5407_5409delGTTinsATA",
"hgvs_p": "p.Val1803Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860334.2",
"strand": false,
"transcript": "XM_017004845.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1809,
"aa_ref": "V",
"aa_start": 1778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7003,
"cdna_start": 5475,
"cds_end": null,
"cds_length": 5430,
"cds_start": 5332,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445734.1",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "c.5332_5334delGTTinsATA",
"hgvs_p": "p.Val1778Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301690.1",
"strand": false,
"transcript": "XM_047445734.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007081580.1",
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"hgvs_c": "n.*116_*118delGTTinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007081580.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 32415,
"gene_symbol": "RGPD2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.131,
"pos": 87772230,
"ref": "AAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001078170.3"
}
]
}