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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: 3-9748191-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9748191&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9748191,
"ref": "T",
"alt": "C",
"effect": "downstream_gene_variant",
"transcript": "ENST00000383829.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_001003694.2",
"protein_id": "NP_001003694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": "ENST00000383829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "ENST00000383829.7",
"protein_id": "ENSP00000373340.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": "NM_001003694.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "ENST00000424362.7",
"protein_id": "ENSP00000398863.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_001437892.1",
"protein_id": "NP_001424821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_001438342.1",
"protein_id": "NP_001425271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1247,
"cds_start": -4,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "ENST00000682208.1",
"protein_id": "ENSP00000508123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1247,
"cds_start": -4,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_001410704.1",
"protein_id": "NP_001397633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_004634.3",
"protein_id": "NP_004625.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "ENST00000683743.1",
"protein_id": "ENSP00000507469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
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"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_001319050.2",
"protein_id": "NP_001305979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.*842T>C",
"hgvs_p": null,
"transcript": "NM_001438343.1",
"protein_id": "NP_001425272.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "BRPF1",
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"hgvs_c": "c.*842T>C",
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"transcript": "ENST00000684333.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "BRPF1",
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"hgvs_c": "c.*985T>C",
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"transcript": "ENST00000457855.2",
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},
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],
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"intron_rank": null,
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"gene_symbol": "BRPF1",
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"hgvs_c": "c.*842T>C",
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"transcript": "NM_001438344.1",
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},
{
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],
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"transcript": "NM_001438345.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "BRPF1",
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},
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],
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"gene_symbol": "BRPF1",
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"transcript": "NM_001319049.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "BRPF1",
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"hgvs_c": "c.*842T>C",
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"transcript": "NM_001438346.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "BRPF1",
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},
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],
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},
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],
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},
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],
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"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.*176T>C",
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"transcript": "NR_160918.1",
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"biotype": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "BRPF1",
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"hgvs_c": "c.*842T>C",
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"transcript": "XM_047448875.1",
"protein_id": "XP_047304831.1",
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},
{
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},
{
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"downstream_gene_variant"
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}
],
"gene_symbol": "BRPF1",
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"dbsnp": "rs159153",
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"hom_count_reference_population": 7953,
"allele_count_reference_population": 48503,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.318784,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48503,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7953,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.298,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000383829.7",
"gene_symbol": "BRPF1",
"hgnc_id": 14255,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*842T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}