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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: 14-80581630-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=80581630&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 80581630,
"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": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>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": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>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": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "ENST00000281129.7",
"protein_id": "ENSP00000281129.3",
"transcript_support_level": 1,
"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": 4461,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.1880-1207G>A",
"hgvs_p": null,
"transcript": "ENST00000554502.5",
"protein_id": "ENSP00000451319.1",
"transcript_support_level": 2,
"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": 3774,
"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": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.3600-1207G>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": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>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,
"cdna_end": null,
"cdna_length": 5153,
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_011536492.3",
"protein_id": "XP_011534794.1",
"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,
"cdna_end": null,
"cdna_length": 4569,
"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": 21,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431018.1",
"protein_id": "XP_047286974.1",
"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": 4732,
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431019.1",
"protein_id": "XP_047286975.1",
"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": 4635,
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431020.1",
"protein_id": "XP_047286976.1",
"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": 4517,
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431021.1",
"protein_id": "XP_047286977.1",
"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": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431022.1",
"protein_id": "XP_047286978.1",
"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,
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"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": 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": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_011536493.3",
"protein_id": "XP_011534795.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1090,
"cds_start": -4,
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"cds_length": 3273,
"cdna_start": null,
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"cdna_length": 5039,
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431023.1",
"protein_id": "XP_047286979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1060,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431025.1",
"protein_id": "XP_047286981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
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"cds_length": 3165,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2807-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431026.1",
"protein_id": "XP_047286982.1",
"transcript_support_level": 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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2381-1207G>A",
"hgvs_p": null,
"transcript": "XM_047431027.1",
"protein_id": "XP_047286983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.1601-1207G>A",
"hgvs_p": null,
"transcript": "XM_017021043.2",
"protein_id": "XP_016876532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
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"cdna_length": 3220,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"dbsnp": "rs1868629",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.125,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000555265.6",
"gene_symbol": "CEP128",
"hgnc_id": 20359,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2807-1207G>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
}