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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: 11-17463609-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17463609&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17463609,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_000352.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "NM_000352.6",
"protein_id": "NP_000343.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "ENST00000389817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "ENST00000389817.8",
"protein_id": "ENSP00000374467.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "NM_000352.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "NM_001351295.2",
"protein_id": "NP_001338224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": -4,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "ENST00000644772.1",
"protein_id": "ENSP00000494321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": -4,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "NM_001287174.3",
"protein_id": "NP_001274103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": -4,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "ENST00000302539.9",
"protein_id": "ENSP00000303960.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": -4,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "NM_001351296.2",
"protein_id": "NP_001338225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "ENST00000643260.1",
"protein_id": "ENSP00000494450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "NM_001351297.2",
"protein_id": "NP_001338226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.413-5G>A",
"hgvs_p": null,
"transcript": "ENST00000642271.1",
"protein_id": "ENSP00000493749.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1580,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 3,
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"gene_symbol": "ABCC8",
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"hgvs_c": "c.413-5G>A",
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"transcript": "ENST00000646902.1",
"protein_id": "ENSP00000494101.1",
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},
{
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"consequences": [
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"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "ABCC8",
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"transcript": "ENST00000683136.1",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 3,
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"gene_symbol": "ABCC8",
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},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 3,
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"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.482-5G>A",
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"transcript": "ENST00000524561.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ABCC8",
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},
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 3,
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"gene_symbol": "ABCC8",
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"hgvs_c": "n.413-5G>A",
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"transcript": "ENST00000527905.5",
"protein_id": "ENSP00000431653.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.482-5G>A",
"hgvs_p": null,
"transcript": "ENST00000528202.6",
"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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"intron_rank": 3,
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},
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],
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.395-5G>A",
"hgvs_p": null,
"transcript": "ENST00000642902.1",
"protein_id": "ENSP00000493601.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
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}
],
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"dbsnp": "rs186946111",
"frequency_reference_population": 0.00010892594,
"hom_count_reference_population": 0,
"allele_count_reference_population": 171,
"gnomad_exomes_af": 0.0000648954,
"gnomad_genomes_af": 0.000519027,
"gnomad_exomes_ac": 92,
"gnomad_genomes_ac": 79,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6159999966621399,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.123,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.99,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.739743685996352,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000352.6",
"gene_symbol": "ABCC8",
"hgnc_id": 59,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD,Unknown,SD",
"hgvs_c": "c.413-5G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 1, 2, familial, transient neonatal,Diabetes mellitus,Hyperinsulinemic hypoglycemia,Inborn genetic diseases,Leucine-induced hypoglycemia,Maturity onset diabetes mellitus in young,Permanent neonatal diabetes mellitus,Transitory neonatal diabetes mellitus,Type 2 diabetes mellitus,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1",
"phenotype_combined": "not provided|Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Permanent neonatal diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young|not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}