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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: 16-28908650-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28908650&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28908650,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024816.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Gln402Lys",
"transcript": "NM_024816.3",
"protein_id": "NP_079092.2",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 569,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358201.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024816.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Gln402Lys",
"transcript": "ENST00000358201.9",
"protein_id": "ENSP00000350934.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 569,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024816.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358201.9"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Gln370Lys",
"transcript": "ENST00000357573.10",
"protein_id": "ENSP00000350186.6",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 533,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357573.10"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1198C>A",
"hgvs_p": "p.Gln400Lys",
"transcript": "ENST00000971430.1",
"protein_id": "ENSP00000641489.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 567,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971430.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Gln402Lys",
"transcript": "ENST00000873987.1",
"protein_id": "ENSP00000544046.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 565,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873987.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1198C>A",
"hgvs_p": "p.Gln400Lys",
"transcript": "ENST00000971429.1",
"protein_id": "ENSP00000641488.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 563,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971429.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Gln370Lys",
"transcript": "ENST00000971436.1",
"protein_id": "ENSP00000641495.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 537,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971436.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Gln402Lys",
"transcript": "ENST00000971431.1",
"protein_id": "ENSP00000641490.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 530,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971431.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Gln331Lys",
"transcript": "ENST00000544477.5",
"protein_id": "ENSP00000442798.1",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 498,
"cds_start": 991,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544477.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Gln331Lys",
"transcript": "ENST00000873986.1",
"protein_id": "ENSP00000544045.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 494,
"cds_start": 991,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873986.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Gln299Lys",
"transcript": "ENST00000971433.1",
"protein_id": "ENSP00000641492.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 466,
"cds_start": 895,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971433.1"
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1128+76C>A",
"hgvs_p": null,
"transcript": "ENST00000971432.1",
"protein_id": "ENSP00000641491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971432.1"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1128+76C>A",
"hgvs_p": null,
"transcript": "ENST00000873988.1",
"protein_id": "ENSP00000544047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873988.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1089+2238C>A",
"hgvs_p": null,
"transcript": "ENST00000971435.1",
"protein_id": "ENSP00000641494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971435.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.895-2454C>A",
"hgvs_p": null,
"transcript": "ENST00000971434.1",
"protein_id": "ENSP00000641493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971434.1"
}
],
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"dbsnp": "rs774535860",
"frequency_reference_population": 6.841124e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84112e-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": 0.25929364562034607,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.808,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024816.3",
"gene_symbol": "RABEP2",
"hgnc_id": 24817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Gln402Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}