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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: 6-118548260-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=118548260&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 118548260,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000368491.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1020+17269T>G",
"hgvs_p": null,
"transcript": "NM_001042475.3",
"protein_id": "NP_001035940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": -4,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7373,
"mane_select": "ENST00000368491.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1020+17269T>G",
"hgvs_p": null,
"transcript": "ENST00000368491.8",
"protein_id": "ENSP00000357477.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": -4,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7373,
"mane_select": "NM_001042475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "ENST00000434604.5",
"protein_id": "ENSP00000392131.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "ENST00000392500.7",
"protein_id": "ENSP00000376288.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1020+17269T>G",
"hgvs_p": null,
"transcript": "ENST00000419517.2",
"protein_id": "ENSP00000393317.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.714+17269T>G",
"hgvs_p": null,
"transcript": "ENST00000360290.7",
"protein_id": "ENSP00000353434.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "NM_001178035.2",
"protein_id": "NP_001171506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "ENST00000368488.9",
"protein_id": "ENSP00000357474.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1020+17269T>G",
"hgvs_p": null,
"transcript": "NM_206921.3",
"protein_id": "NP_996804.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "XM_017010846.2",
"protein_id": "XP_016866335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "XM_047418758.1",
"protein_id": "XP_047274714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7336,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "XM_047418759.1",
"protein_id": "XP_047274715.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7240,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "XM_047418760.1",
"protein_id": "XP_047274716.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1029+17269T>G",
"hgvs_p": null,
"transcript": "XM_011535810.3",
"protein_id": "XP_011534112.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
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"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.1020+17269T>G",
"hgvs_p": null,
"transcript": "XM_047418761.1",
"protein_id": "XP_047274717.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
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"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.714+17269T>G",
"hgvs_p": null,
"transcript": "XM_005266970.2",
"protein_id": "XP_005267027.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.714+17269T>G",
"hgvs_p": null,
"transcript": "XM_005266971.2",
"protein_id": "XP_005267028.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.714+17269T>G",
"hgvs_p": null,
"transcript": "XM_011535811.2",
"protein_id": "XP_011534113.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"hgvs_c": "c.-67+15676T>G",
"hgvs_p": null,
"transcript": "XM_047418762.1",
"protein_id": "XP_047274718.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLN",
"gene_hgnc_id": 9080,
"hgvs_c": "c.-230A>C",
"hgvs_p": null,
"transcript": "NM_002667.5",
"protein_id": "NP_002658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2989,
"mane_select": "ENST00000357525.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLN",
"gene_hgnc_id": 9080,
"hgvs_c": "c.-230A>C",
"hgvs_p": null,
"transcript": "ENST00000357525.6",
"protein_id": "ENSP00000350132.5",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 52,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "NM_002667.5",
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP85L",
"gene_hgnc_id": 21638,
"dbsnp": "rs77186188",
"frequency_reference_population": 0.04029162,
"hom_count_reference_population": 198,
"allele_count_reference_population": 6129,
"gnomad_exomes_af": 0.0714286,
"gnomad_genomes_af": 0.0402888,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 6128,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 198,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.384,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000368491.8",
"gene_symbol": "CEP85L",
"hgnc_id": 21638,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1020+17269T>G",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357525.6",
"gene_symbol": "PLN",
"hgnc_id": 9080,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-230A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Dilated cardiomyopathy 1P,Lissencephaly 10,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided|Dilated cardiomyopathy 1P|Lissencephaly 10",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}