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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: 16-28906109-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28906109&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RABEP2",
"hgnc_id": 24817,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Glu445Lys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_024816.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.5475,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.852495551109314,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_024816.3",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Glu445Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358201.9",
"protein_coding": true,
"protein_id": "NP_079092.2",
"strand": false,
"transcript": "NM_024816.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000358201.9",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Glu445Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024816.3",
"protein_coding": true,
"protein_id": "ENSP00000350934.4",
"strand": false,
"transcript": "ENST00000358201.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "E",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000357573.10",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Glu413Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350186.6",
"strand": false,
"transcript": "ENST00000357573.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 567,
"aa_ref": "E",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971430.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Glu443Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641489.1",
"strand": false,
"transcript": "ENST00000971430.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 565,
"aa_ref": "E",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873987.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Glu445Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544046.1",
"strand": false,
"transcript": "ENST00000873987.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 563,
"aa_ref": "E",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971429.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Glu443Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641488.1",
"strand": false,
"transcript": "ENST00000971429.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "E",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971436.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Glu413Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641495.1",
"strand": false,
"transcript": "ENST00000971436.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 530,
"aa_ref": "E",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971431.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Glu445Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641490.1",
"strand": false,
"transcript": "ENST00000971431.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 530,
"aa_ref": "E",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971432.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Glu406Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641491.1",
"strand": false,
"transcript": "ENST00000971432.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 526,
"aa_ref": "E",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873988.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Glu406Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544047.1",
"strand": false,
"transcript": "ENST00000873988.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 517,
"aa_ref": "E",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971435.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Glu393Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641494.1",
"strand": false,
"transcript": "ENST00000971435.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 498,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000544477.5",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Glu374Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442798.1",
"strand": false,
"transcript": "ENST00000544477.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 494,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873986.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Glu374Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544045.1",
"strand": false,
"transcript": "ENST00000873986.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 466,
"aa_ref": "E",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971433.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641492.1",
"strand": false,
"transcript": "ENST00000971433.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 452,
"aa_ref": "E",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1359,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971434.1",
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Glu328Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641493.1",
"strand": false,
"transcript": "ENST00000971434.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1277614843",
"effect": "missense_variant",
"frequency_reference_population": 0.0000027729905,
"gene_hgnc_id": 24817,
"gene_symbol": "RABEP2",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000277299,
"gnomad_exomes_homalt": 0,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.002,
"pos": 28906109,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.443,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024816.3"
}
]
}