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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: 16-3523261-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3523261&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3523261,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000576634.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Phe",
"transcript": "NM_015041.3",
"protein_id": "NP_055856.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 413,
"cds_start": 817,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": "ENST00000576634.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Phe",
"transcript": "ENST00000576634.6",
"protein_id": "ENSP00000460850.1",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 413,
"cds_start": 817,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": "NM_015041.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Phe",
"transcript": "NM_001330454.2",
"protein_id": "NP_001317383.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 432,
"cds_start": 817,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Phe",
"transcript": "ENST00000341633.9",
"protein_id": "ENSP00000344392.5",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 432,
"cds_start": 817,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Phe",
"transcript": "ENST00000571025.5",
"protein_id": "ENSP00000460706.1",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 387,
"cds_start": 817,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Leu107Phe",
"transcript": "NM_024793.3",
"protein_id": "NP_079069.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 247,
"cds_start": 319,
"cds_end": null,
"cds_length": 744,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Leu107Phe",
"transcript": "ENST00000572600.5",
"protein_id": "ENSP00000460889.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 247,
"cds_start": 319,
"cds_end": null,
"cds_length": 744,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Leu107Phe",
"transcript": "ENST00000574551.1",
"protein_id": "ENSP00000458513.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 150,
"cds_start": 319,
"cds_end": null,
"cds_length": 453,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Leu300Phe",
"transcript": "XM_047433797.1",
"protein_id": "XP_047289753.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 459,
"cds_start": 898,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Leu300Phe",
"transcript": "XM_047433798.1",
"protein_id": "XP_047289754.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 440,
"cds_start": 898,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Leu262Phe",
"transcript": "XM_047433799.1",
"protein_id": "XP_047289755.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 421,
"cds_start": 784,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Leu201Phe",
"transcript": "XM_017023073.2",
"protein_id": "XP_016878562.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 360,
"cds_start": 601,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Leu300Phe",
"transcript": "XM_047433800.1",
"protein_id": "XP_047289756.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 318,
"cds_start": 898,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "n.*86C>T",
"hgvs_p": null,
"transcript": "ENST00000572632.1",
"protein_id": "ENSP00000458180.1",
"transcript_support_level": 3,
"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": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"transcript": "ENST00000575134.1",
"protein_id": "ENSP00000459399.1",
"transcript_support_level": 3,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "n.*86C>T",
"hgvs_p": null,
"transcript": "ENST00000572632.1",
"protein_id": "ENSP00000458180.1",
"transcript_support_level": 3,
"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": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"transcript": "ENST00000575134.1",
"protein_id": "ENSP00000459399.1",
"transcript_support_level": 3,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "c.*32C>T",
"hgvs_p": null,
"transcript": "ENST00000574369.5",
"protein_id": "ENSP00000458886.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"hgvs_c": "n.*579C>T",
"hgvs_p": null,
"transcript": "ENST00000574592.5",
"protein_id": "ENSP00000459602.1",
"transcript_support_level": 3,
"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": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLUAP1",
"gene_hgnc_id": 19009,
"dbsnp": "rs751218423",
"frequency_reference_population": 0.000005474443,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547444,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8312098979949951,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.44,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.861,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000576634.6",
"gene_symbol": "CLUAP1",
"hgnc_id": 19009,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Leu273Phe"
}
],
"clinvar_disease": "Leber congenital amaurosis,Toriello-Lacassie-Droste syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Leber congenital amaurosis|Toriello-Lacassie-Droste syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}