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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: 3-184352435-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184352435&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184352435,
"ref": "A",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000265593.9",
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null,
"transcript": "NM_004366.6",
"protein_id": "NP_004357.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "ENST00000265593.9",
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null,
"transcript": "ENST00000265593.9",
"protein_id": "ENSP00000265593.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "NM_004366.6",
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2220+8T>G",
"hgvs_p": null,
"transcript": "ENST00000344937.11",
"protein_id": "ENSP00000345056.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 881,
"cds_start": -4,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*737+8T>G",
"hgvs_p": null,
"transcript": "ENST00000430397.5",
"protein_id": "ENSP00000396231.1",
"transcript_support_level": 1,
"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": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.538T>G",
"hgvs_p": null,
"transcript": "ENST00000491162.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 557,
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2220+8T>G",
"hgvs_p": null,
"transcript": "NM_001171087.3",
"protein_id": "NP_001164558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 881,
"cds_start": -4,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3193,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null,
"transcript": "NM_001171089.3",
"protein_id": "NP_001164560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null,
"transcript": "ENST00000457512.1",
"protein_id": "ENSP00000391928.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2820,
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2139+8T>G",
"hgvs_p": null,
"transcript": "NM_001171088.3",
"protein_id": "NP_001164559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3112,
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2139+8T>G",
"hgvs_p": null,
"transcript": "ENST00000434054.6",
"protein_id": "ENSP00000400425.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*1169+8T>G",
"hgvs_p": null,
"transcript": "ENST00000636180.1",
"protein_id": "ENSP00000490374.1",
"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": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*2581+8T>G",
"hgvs_p": null,
"transcript": "ENST00000636661.1",
"protein_id": "ENSP00000490764.1",
"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": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.3813+8T>G",
"hgvs_p": null,
"transcript": "ENST00000637392.1",
"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": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*737+8T>G",
"hgvs_p": null,
"transcript": "ENST00000637538.1",
"protein_id": "ENSP00000490682.1",
"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": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*1160+8T>G",
"hgvs_p": null,
"transcript": "ENST00000637909.1",
"protein_id": "ENSP00000490570.1",
"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": 2910,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null,
"transcript": "XM_006713489.2",
"protein_id": "XP_006713552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3139,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null,
"transcript": "XM_011512401.2",
"protein_id": "XP_011510703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"dbsnp": "rs114350071",
"frequency_reference_population": 0.0023839187,
"hom_count_reference_population": 46,
"allele_count_reference_population": 3846,
"gnomad_exomes_af": 0.00161806,
"gnomad_genomes_af": 0.00973079,
"gnomad_exomes_ac": 2364,
"gnomad_genomes_ac": 1482,
"gnomad_exomes_homalt": 24,
"gnomad_genomes_homalt": 22,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.104,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000174586225159984,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000265593.9",
"gene_symbol": "CLCN2",
"hgnc_id": 2020,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2271+8T>G",
"hgvs_p": null
}
],
"clinvar_disease": " 11, idiopathic generalized, susceptibility to,Epilepsy,Familial hyperaldosteronism type II,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|not specified|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}