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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: 2-43877865-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43877865&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ABCG8",
"hgnc_id": 13887,
"hgvs_c": "c.1974C>G",
"hgvs_p": "p.Tyr658*",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_022437.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_score": 5,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "ABCG8-related disorder,Cardiovascular phenotype,Sitosterolemia,Sitosterolemia 1,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:4 US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 673,
"aa_ref": "Y",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7180,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1974,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_022437.3",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1974C>G",
"hgvs_p": "p.Tyr658*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272286.4",
"protein_coding": true,
"protein_id": "NP_071882.1",
"strand": true,
"transcript": "NM_022437.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 673,
"aa_ref": "Y",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7180,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1974,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000272286.4",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1974C>G",
"hgvs_p": "p.Tyr658*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022437.3",
"protein_coding": true,
"protein_id": "ENSP00000272286.2",
"strand": true,
"transcript": "ENST00000272286.4",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 678,
"aa_ref": "Y",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1989,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881895.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1989C>G",
"hgvs_p": "p.Tyr663*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551954.1",
"strand": true,
"transcript": "ENST00000881895.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1986,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881900.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1986C>G",
"hgvs_p": "p.Tyr662*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551959.1",
"strand": true,
"transcript": "ENST00000881900.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7177,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1971,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001357321.2",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1971C>G",
"hgvs_p": "p.Tyr657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001344250.1",
"strand": true,
"transcript": "NM_001357321.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Y",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1971,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881893.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1971C>G",
"hgvs_p": "p.Tyr657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551952.1",
"strand": true,
"transcript": "ENST00000881893.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 669,
"aa_ref": "Y",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1962,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881902.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1962C>G",
"hgvs_p": "p.Tyr654*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551961.1",
"strand": true,
"transcript": "ENST00000881902.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 666,
"aa_ref": "Y",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1953,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881896.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1953C>G",
"hgvs_p": "p.Tyr651*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551955.1",
"strand": true,
"transcript": "ENST00000881896.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 665,
"aa_ref": "Y",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1950,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881899.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1950C>G",
"hgvs_p": "p.Tyr650*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551958.1",
"strand": true,
"transcript": "ENST00000881899.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Y",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 2546,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1890,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881892.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1890C>G",
"hgvs_p": "p.Tyr630*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551951.1",
"strand": true,
"transcript": "ENST00000881892.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 639,
"aa_ref": "Y",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1872,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881897.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1872C>G",
"hgvs_p": "p.Tyr624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551956.1",
"strand": true,
"transcript": "ENST00000881897.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 549,
"aa_ref": "Y",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1602,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881901.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Tyr534*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551960.1",
"strand": true,
"transcript": "ENST00000881901.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 548,
"aa_ref": "Y",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1599,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881894.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1599C>G",
"hgvs_p": "p.Tyr533*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551953.1",
"strand": true,
"transcript": "ENST00000881894.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Y",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1332,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881898.1",
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"hgvs_c": "c.1332C>G",
"hgvs_p": "p.Tyr444*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551957.1",
"strand": true,
"transcript": "ENST00000881898.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs137852989",
"effect": "stop_gained",
"frequency_reference_population": 0.000022923303,
"gene_hgnc_id": 13887,
"gene_symbol": "ABCG8",
"gnomad_exomes_ac": 25,
"gnomad_exomes_af": 0.0000171012,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 12,
"gnomad_genomes_af": 0.0000788457,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Sitosterolemia 1|Sitosterolemia|ABCG8-related disorder|Cardiovascular phenotype",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.321,
"pos": 43877865,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_022437.3"
}
]
}