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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: 5-93583271-GTCTCTCTCTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=93583271&ref=GTCTCTCTCTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 93583271,
"ref": "GTCTCTCTCTC",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000327111.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2F1",
"gene_hgnc_id": 7975,
"hgvs_c": "c.-1737_-1728delCTCTCTCTCT",
"hgvs_p": null,
"transcript": "NM_005654.6",
"protein_id": "NP_005645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": "ENST00000327111.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2F1",
"gene_hgnc_id": 7975,
"hgvs_c": "c.-1737_-1728delCTCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000327111.8",
"protein_id": "ENSP00000325819.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": "NM_005654.6",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.216+2103_216+2112delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000513055.2",
"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": 1193,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.261+2048_261+2057delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000656155.1",
"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": 2755,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.206+2048_206+2057delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000657648.1",
"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": 2330,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.239+2103_239+2112delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000659336.1",
"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": 2707,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.299+2048_299+2057delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000659381.1",
"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": 2478,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.53+2048_53+2057delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000661573.1",
"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": 2639,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.254+2103_254+2112delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000661870.1",
"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": 2684,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.206+2103_206+2112delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000664168.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1677,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.321+2048_321+2057delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000666033.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2789,
"mane_select": null,
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"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": 6,
"intron_rank": 1,
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"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.265+2103_265+2112delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "ENST00000670813.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.667+497_667+506delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "NR_186212.1",
"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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"exon_count": 7,
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"gene_symbol": "NR2F1-AS1",
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"hgvs_c": "n.330+834_330+843delGAGAGAGAGA",
"hgvs_p": null,
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},
{
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],
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"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.330+834_330+843delGAGAGAGAGA",
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"transcript": "NR_186214.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "NR2F1-AS1",
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},
{
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],
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"hgvs_c": "n.261+2048_261+2057delGAGAGAGAGA",
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"transcript": "NR_186216.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "NR2F1-AS1",
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"hgvs_c": "n.206+2103_206+2112delGAGAGAGAGA",
"hgvs_p": null,
"transcript": "NR_186217.1",
"protein_id": null,
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},
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],
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"intron_rank": 1,
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"gene_symbol": "NR2F1-AS1",
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],
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"gene_symbol": "NR2F1-AS1",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
"gene_hgnc_id": 48622,
"hgvs_c": "n.261+2048_261+2057delGAGAGAGAGA",
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"transcript": "NR_186221.1",
"protein_id": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR2F1-AS1",
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"hgvs_c": "n.261+2048_261+2057delGAGAGAGAGA",
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"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2900,
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "NR2F1",
"gene_hgnc_id": 7975,
"dbsnp": "rs140194624",
"frequency_reference_population": 0.000020679101,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_genomes_af": 0.0000206791,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"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": 3.739,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS1",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000327111.8",
"gene_symbol": "NR2F1",
"hgnc_id": 7975,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-1737_-1728delCTCTCTCTCT",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_186212.1",
"gene_symbol": "NR2F1-AS1",
"hgnc_id": 48622,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.667+497_667+506delGAGAGAGAGA",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}