← Back to variant description
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: 19-14641513-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14641513&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14641513,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000253673.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.1154G>C",
"hgvs_p": "p.Arg385Pro",
"transcript": "NM_032571.5",
"protein_id": "NP_115960.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 652,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": "ENST00000253673.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.1154G>C",
"hgvs_p": "p.Arg385Pro",
"transcript": "ENST00000253673.6",
"protein_id": "ENSP00000253673.4",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 652,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": "NM_032571.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"transcript": "ENST00000344373.8",
"protein_id": "ENSP00000340758.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 600,
"cds_start": 998,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.1154G>C",
"hgvs_p": "p.Arg385Pro",
"transcript": "ENST00000718247.1",
"protein_id": "ENSP00000520692.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 655,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"transcript": "NM_001289158.2",
"protein_id": "NP_001276087.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 600,
"cds_start": 998,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "NM_001289159.2",
"protein_id": "NP_001276088.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 526,
"cds_start": 776,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000443157.6",
"protein_id": "ENSP00000396208.2",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 526,
"cds_start": 776,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Arg170Pro",
"transcript": "ENST00000599900.5",
"protein_id": "ENSP00000471853.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 437,
"cds_start": 509,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.1103G>C",
"hgvs_p": "p.Arg368Pro",
"transcript": "XM_011528374.3",
"protein_id": "XP_011526676.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 635,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "n.1228G>C",
"hgvs_p": null,
"transcript": "XR_001753772.2",
"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": 2353,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"hgvs_c": "c.1050+2595G>C",
"hgvs_p": null,
"transcript": "XM_047439546.1",
"protein_id": "XP_047295502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRE3",
"gene_hgnc_id": 23647,
"dbsnp": "rs45508602",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37559837102890015,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.309,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.992,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000253673.6",
"gene_symbol": "ADGRE3",
"hgnc_id": 23647,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1154G>C",
"hgvs_p": "p.Arg385Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}