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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: 12-6444664-T-TGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6444664&ref=T&alt=TGGG&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6444664,
"ref": "T",
"alt": "TGGG",
"effect": "intron_variant",
"transcript": "NM_001413266.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.485-948_485-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000399492.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.814-948_814-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000417058.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.1980-948_1980-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000537003.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD27",
"gene_hgnc_id": 11922,
"hgvs_c": "c.-315+552_-315+554dupGGG",
"hgvs_p": null,
"transcript": "NM_001413266.1",
"protein_id": "NP_001400195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD27",
"gene_hgnc_id": 11922,
"hgvs_c": "c.-403+552_-403+554dupGGG",
"hgvs_p": null,
"transcript": "NM_001413267.1",
"protein_id": "NP_001400196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD27",
"gene_hgnc_id": 11922,
"hgvs_c": "c.-315+64_-315+66dupGGG",
"hgvs_p": null,
"transcript": "NM_001413268.1",
"protein_id": "NP_001400197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.1517-948_1517-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000535639.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.1079-948_1079-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000545339.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.933-948_933-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000653829.1",
"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": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.1031-948_1031-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000655473.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "CD27-AS1",
"gene_hgnc_id": 43896,
"hgvs_c": "n.1980-948_1980-947insCCC",
"hgvs_p": null,
"transcript": "ENST00000659623.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"hgvs_c": "n.1118-948_1118-947insCCC",
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{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "CD27-AS1",
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"hgvs_c": "n.1031-948_1031-947insCCC",
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"gene_symbol": "CD27-AS1",
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{
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],
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"gene_symbol": "CD27-AS1",
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{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "CD27-AS1",
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"hgvs_c": "n.460-948_460-947insCCC",
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{
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},
{
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],
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"gene_symbol": "CD27-AS1",
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"hgvs_c": "n.393-948_393-947insCCC",
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "CD27-AS1",
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"hgvs_c": "n.394+2296_394+2297insCCC",
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},
{
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"gene_symbol": "CD27-AS1",
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],
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"gene_symbol": "CD27-AS1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD27-AS1",
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"hgvs_c": "n.387-948_387-947insCCC",
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"transcript": "ENST00000762178.1",
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "CD27-AS1",
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"hgvs_c": "n.1517-950_1517-948dupCCC",
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"transcript": "NR_015382.2",
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"cds_start": -4,
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"cdna_length": 2364,
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"feature": null
}
],
"gene_symbol": "CD27",
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"dbsnp": "rs57782770",
"frequency_reference_population": 0.00015469862,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000154699,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -2.065,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001413266.1",
"gene_symbol": "CD27",
"hgnc_id": 11922,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-315+552_-315+554dupGGG",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399492.6",
"gene_symbol": "CD27-AS1",
"hgnc_id": 43896,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.485-948_485-947insCCC",
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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
}