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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: 22-50446979-C-CGGGCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50446979&ref=C&alt=CGGGCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50446979,
"ref": "C",
"alt": "CGGGCG",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001410794.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "NM_002972.4",
"protein_id": "NP_002963.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": null,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380817.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002972.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000380817.8",
"protein_id": "ENSP00000370196.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": null,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002972.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380817.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000418590.4",
"protein_id": "ENSP00000401538.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418590.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000931646.1",
"protein_id": "ENSP00000601705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1913,
"cds_start": null,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000967446.1",
"protein_id": "ENSP00000637505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1900,
"cds_start": null,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000693052.1",
"protein_id": "ENSP00000509558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1899,
"cds_start": null,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000931645.1",
"protein_id": "ENSP00000601704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1897,
"cds_start": null,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000967449.1",
"protein_id": "ENSP00000637508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1896,
"cds_start": null,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "NM_001410794.1",
"protein_id": "NP_001397723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1894,
"cds_start": null,
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"cds_length": 5685,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000684986.1",
"protein_id": "ENSP00000509117.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1894,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000684986.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
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"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "SBF1",
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"hgvs_c": "c.*158_*162dupCGCCC",
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"transcript": "ENST00000688066.1",
"protein_id": "ENSP00000510782.1",
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},
{
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],
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},
{
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"strand": false,
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],
"exon_rank": 41,
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},
{
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],
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},
{
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],
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"gene_symbol": "SBF1",
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},
{
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],
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},
{
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],
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"gene_symbol": "SBF1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SBF1",
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"hgvs_c": "c.*158_*162dupCGCCC",
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},
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],
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},
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},
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],
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"feature": "ENST00000967448.1"
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SBF1",
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"hgvs_c": "c.*158_*162dupCGCCC",
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"transcript": "NM_001365819.1",
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},
{
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"strand": false,
"consequences": [
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"hgvs_c": "n.*17_*21dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000686191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*43_*47dupCGCCC",
"hgvs_p": null,
"transcript": "ENST00000686758.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686758.1"
}
],
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"dbsnp": "rs963346132",
"frequency_reference_population": 0.0024601081,
"hom_count_reference_population": 11,
"allele_count_reference_population": 1773,
"gnomad_exomes_af": 0.00168853,
"gnomad_genomes_af": 0.00550658,
"gnomad_exomes_ac": 971,
"gnomad_genomes_ac": 802,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 6,
"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": -0.319,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001410794.1",
"gene_symbol": "SBF1",
"hgnc_id": 10542,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*158_*162dupCGCCC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}