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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: 5-10261617-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10261617&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10261617,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000280326.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "NM_012073.5",
"protein_id": "NP_036205.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 541,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "ENST00000280326.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"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": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "ENST00000280326.9",
"protein_id": "ENSP00000280326.4",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 541,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "NM_012073.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Glu330Lys",
"transcript": "NM_001306153.1",
"protein_id": "NP_001293082.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 520,
"cds_start": 988,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Glu330Lys",
"transcript": "ENST00000503026.5",
"protein_id": "ENSP00000423318.1",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 520,
"cds_start": 988,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "NM_001306156.2",
"protein_id": "NP_001293085.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 503,
"cds_start": 937,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "ENST00000515676.5",
"protein_id": "ENSP00000427297.1",
"transcript_support_level": 2,
"aa_start": 313,
"aa_end": null,
"aa_length": 503,
"cds_start": 937,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Glu296Lys",
"transcript": "NM_001306154.2",
"protein_id": "NP_001293083.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 486,
"cds_start": 886,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Glu296Lys",
"transcript": "ENST00000515390.5",
"protein_id": "ENSP00000426923.1",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 486,
"cds_start": 886,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_001306155.2",
"protein_id": "NP_001293084.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 448,
"cds_start": 772,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000506600.1",
"protein_id": "ENSP00000423052.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 448,
"cds_start": 772,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1939,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.648G>A",
"hgvs_p": null,
"transcript": "ENST00000423695.6",
"protein_id": null,
"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": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"dbsnp": "rs140095139",
"frequency_reference_population": 0.000053901742,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000533562,
"gnomad_genomes_af": 0.0000591428,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6280573606491089,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.612,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.518,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000280326.9",
"gene_symbol": "CCT5",
"hgnc_id": 1618,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys"
}
],
"clinvar_disease": "Hereditary sensory and autonomic neuropathy with spastic paraplegia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy with spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}