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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: 17-2691889-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2691889&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLUH",
"hgnc_id": 29094,
"hgvs_c": "c.3661G>A",
"hgvs_p": "p.Glu1221Lys",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001366661.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5387,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7820242643356323,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "E",
"aa_start": 1221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 3764,
"cds_end": null,
"cds_length": 4047,
"cds_start": 3661,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001366661.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3661G>A",
"hgvs_p": "p.Glu1221Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651024.2",
"protein_coding": true,
"protein_id": "NP_001353590.1",
"strand": false,
"transcript": "NM_001366661.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "E",
"aa_start": 1221,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 3764,
"cds_end": null,
"cds_length": 4047,
"cds_start": 3661,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000651024.2",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3661G>A",
"hgvs_p": "p.Glu1221Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366661.1",
"protein_coding": true,
"protein_id": "ENSP00000498679.1",
"strand": false,
"transcript": "ENST00000651024.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000574210.5",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "n.985G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000574210.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "E",
"aa_start": 1227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5342,
"cdna_start": 3753,
"cds_end": null,
"cds_length": 4065,
"cds_start": 3679,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000876318.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3679G>A",
"hgvs_p": "p.Glu1227Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546377.1",
"strand": false,
"transcript": "ENST00000876318.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "E",
"aa_start": 1226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 3779,
"cds_end": null,
"cds_length": 4062,
"cds_start": 3676,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000876317.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3676G>A",
"hgvs_p": "p.Glu1226Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546376.1",
"strand": false,
"transcript": "ENST00000876317.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "E",
"aa_start": 1226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 3757,
"cds_end": null,
"cds_length": 4062,
"cds_start": 3676,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000923741.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3676G>A",
"hgvs_p": "p.Glu1226Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593800.1",
"strand": false,
"transcript": "ENST00000923741.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "E",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5367,
"cdna_start": 3775,
"cds_end": null,
"cds_length": 4059,
"cds_start": 3673,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000923739.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3673G>A",
"hgvs_p": "p.Glu1225Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593798.1",
"strand": false,
"transcript": "ENST00000923739.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5354,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3658,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_015229.4",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3658G>A",
"hgvs_p": "p.Glu1220Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056044.4",
"strand": false,
"transcript": "NM_015229.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "E",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5327,
"cdna_start": 3733,
"cds_end": null,
"cds_length": 4038,
"cds_start": 3652,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000923740.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3652G>A",
"hgvs_p": "p.Glu1218Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593799.1",
"strand": false,
"transcript": "ENST00000923740.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "E",
"aa_start": 1217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 3778,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3649,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000876316.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3649G>A",
"hgvs_p": "p.Glu1217Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546375.1",
"strand": false,
"transcript": "ENST00000876316.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "E",
"aa_start": 1182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 3650,
"cds_end": null,
"cds_length": 3930,
"cds_start": 3544,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001366662.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Glu1182Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353591.1",
"strand": false,
"transcript": "NM_001366662.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "E",
"aa_start": 1182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5224,
"cdna_start": 3630,
"cds_end": null,
"cds_length": 3930,
"cds_start": 3544,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000435359.5",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Glu1182Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388872.1",
"strand": false,
"transcript": "ENST00000435359.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "E",
"aa_start": 1182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5244,
"cdna_start": 3650,
"cds_end": null,
"cds_length": 3930,
"cds_start": 3544,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000570628.6",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Glu1182Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458986.1",
"strand": false,
"transcript": "ENST00000570628.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1297,
"aa_ref": "E",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5236,
"cdna_start": 3642,
"cds_end": null,
"cds_length": 3894,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000574426.7",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3508G>A",
"hgvs_p": "p.Glu1170Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459540.3",
"strand": false,
"transcript": "ENST00000574426.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "E",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4959,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 3753,
"cds_start": 3367,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000575014.5",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464732.2",
"strand": false,
"transcript": "ENST00000575014.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "E",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5757,
"cdna_start": 4164,
"cds_end": null,
"cds_length": 4515,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_024450675.2",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.4129G>A",
"hgvs_p": "p.Glu1377Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306443.2",
"strand": false,
"transcript": "XM_024450675.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5754,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 4512,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_024450676.2",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306444.2",
"strand": false,
"transcript": "XM_024450676.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "E",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 3608,
"cds_end": null,
"cds_length": 3933,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011523768.4",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Glu1183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522070.1",
"strand": false,
"transcript": "XM_011523768.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "E",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5355,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 3933,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_024450679.2",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Glu1183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306447.1",
"strand": false,
"transcript": "XM_024450679.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "E",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5171,
"cdna_start": 3578,
"cds_end": null,
"cds_length": 3933,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047435692.1",
"gene_hgnc_id": 29094,
"gene_symbol": "CLUH",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Glu1183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291648.1",
"strand": false,
"transcript": "XM_047435692.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "E",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5172,
"cdna_start": 3579,
"cds_end": null,
"cds_length": 3933,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047435693.1",
"gene_hgnc_id": 29094,
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}