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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: 17-58555182-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58555182&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58555182,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000578022.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.637-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000578022.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.539-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000580589.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.1119-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000717184.1",
"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": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.720+10511G>T",
"hgvs_p": null,
"transcript": "ENST00000739998.1",
"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": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.433+10511G>T",
"hgvs_p": null,
"transcript": "ENST00000739999.1",
"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": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.636+10511G>T",
"hgvs_p": null,
"transcript": "ENST00000740000.1",
"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": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.945-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000740001.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.1922-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000740002.1",
"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": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.985-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000740003.1",
"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": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.943-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000740004.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.524-1627G>T",
"hgvs_p": null,
"transcript": "ENST00000740005.1",
"protein_id": null,
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},
{
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],
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},
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"intron_variant"
],
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},
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],
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},
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],
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},
{
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"protein_coding": false,
"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "SEPTIN4-AS1",
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"hgvs_c": "n.673-1627G>T",
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"transcript": "ENST00000740010.1",
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},
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],
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},
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],
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"intron_rank": 3,
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"gene_symbol": "SEPTIN4-AS1",
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"hgvs_c": "n.734-1627G>T",
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"transcript": "ENST00000740039.1",
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "SEPTIN4-AS1",
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"hgvs_c": "n.556-1627G>T",
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"transcript": "ENST00000740040.1",
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],
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},
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],
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
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"hgvs_c": "n.537-1627G>T",
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"transcript": "NR_110810.1",
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}
],
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"dbsnp": "rs9905704",
"frequency_reference_population": 0.77128613,
"hom_count_reference_population": 46440,
"allele_count_reference_population": 117399,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.771286,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 117399,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 46440,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.595,
"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": "ENST00000578022.2",
"gene_symbol": "SEPTIN4-AS1",
"hgnc_id": 51345,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.637-1627G>T",
"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
}