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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: 14-80939578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=80939578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 80939578,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000555265.6",
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "NM_152446.5",
"protein_id": "NP_689659.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": "ENST00000555265.6",
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "ENST00000555265.6",
"protein_id": "ENSP00000451162.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": "NM_152446.5",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "ENST00000216517.10",
"protein_id": "ENSP00000216517.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1606,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "ENST00000555529.5",
"protein_id": "ENSP00000451137.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.122-38G>A",
"hgvs_p": null,
"transcript": "ENST00000554298.5",
"protein_id": null,
"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": 1137,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-16+18600G>A",
"hgvs_p": null,
"transcript": "ENST00000556042.5",
"protein_id": "ENSP00000451214.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "ENST00000556981.5",
"protein_id": "ENSP00000451428.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 96,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-329-38G>A",
"hgvs_p": null,
"transcript": "ENST00000557411.5",
"protein_id": "ENSP00000451849.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 19,
"cds_start": -4,
"cds_end": null,
"cds_length": 60,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.159-38G>A",
"hgvs_p": null,
"transcript": "NR_157142.2",
"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": 5078,
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "XM_011536491.3",
"protein_id": "XP_011534793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
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"cdna_length": 5153,
"mane_select": null,
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"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-16+18600G>A",
"hgvs_p": null,
"transcript": "XM_011536492.3",
"protein_id": "XP_011534794.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 3,
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"gene_symbol": "CEP128",
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"hgvs_c": "c.-171-38G>A",
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"transcript": "XM_047431018.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CEP128",
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"hgvs_c": "c.-171-38G>A",
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"transcript": "XM_047431019.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "CEP128",
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"hgvs_c": "c.-171-38G>A",
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"transcript": "XM_047431020.1",
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},
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],
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},
{
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"strand": false,
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],
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"intron_rank": 2,
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"gene_symbol": "CEP128",
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"hgvs_c": "c.-16+18600G>A",
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"transcript": "XM_047431022.1",
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},
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],
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"transcript": "XM_011536493.3",
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},
{
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],
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"gene_symbol": "CEP128",
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"hgvs_c": "c.-171-38G>A",
"hgvs_p": null,
"transcript": "XM_047431023.1",
"protein_id": "XP_047286979.1",
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},
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"consequences": [
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],
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"intron_rank": 1,
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CEP128",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.-209G>A",
"hgvs_p": null,
"transcript": "ENST00000281129.7",
"protein_id": "ENSP00000281129.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"dbsnp": "rs12587252",
"frequency_reference_population": 0.08099942,
"hom_count_reference_population": 1411,
"allele_count_reference_population": 12332,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0809994,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 12332,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1411,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"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": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.084,
"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": "ENST00000555265.6",
"gene_symbol": "CEP128",
"hgnc_id": 20359,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-171-38G>A",
"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
}