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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: 5-10256049-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10256049&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10256049,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000280326.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.426T>A",
"hgvs_p": "p.Arg142Arg",
"transcript": "NM_012073.5",
"protein_id": "NP_036205.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 541,
"cds_start": 426,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "ENST00000280326.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.426T>A",
"hgvs_p": "p.Arg142Arg",
"transcript": "ENST00000280326.9",
"protein_id": "ENSP00000280326.4",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 541,
"cds_start": 426,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "NM_012073.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Arg121Arg",
"transcript": "NM_001306153.1",
"protein_id": "NP_001293082.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 520,
"cds_start": 363,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Arg121Arg",
"transcript": "ENST00000503026.5",
"protein_id": "ENSP00000423318.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 520,
"cds_start": 363,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.312T>A",
"hgvs_p": "p.Arg104Arg",
"transcript": "NM_001306156.2",
"protein_id": "NP_001293085.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 503,
"cds_start": 312,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.312T>A",
"hgvs_p": "p.Arg104Arg",
"transcript": "ENST00000515676.5",
"protein_id": "ENSP00000427297.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 503,
"cds_start": 312,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.261T>A",
"hgvs_p": "p.Arg87Arg",
"transcript": "NM_001306154.2",
"protein_id": "NP_001293083.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 486,
"cds_start": 261,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.261T>A",
"hgvs_p": "p.Arg87Arg",
"transcript": "ENST00000515390.5",
"protein_id": "ENSP00000426923.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 486,
"cds_start": 261,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.147T>A",
"hgvs_p": "p.Arg49Arg",
"transcript": "NM_001306155.2",
"protein_id": "NP_001293084.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 448,
"cds_start": 147,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.147T>A",
"hgvs_p": "p.Arg49Arg",
"transcript": "ENST00000506600.1",
"protein_id": "ENSP00000423052.1",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 448,
"cds_start": 147,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 511,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*127T>A",
"hgvs_p": null,
"transcript": "ENST00000503454.5",
"protein_id": "ENSP00000422744.1",
"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": 762,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*74T>A",
"hgvs_p": null,
"transcript": "ENST00000511700.1",
"protein_id": "ENSP00000423087.1",
"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": 582,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*127T>A",
"hgvs_p": null,
"transcript": "ENST00000503454.5",
"protein_id": "ENSP00000422744.1",
"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": 762,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*74T>A",
"hgvs_p": null,
"transcript": "ENST00000511700.1",
"protein_id": "ENSP00000423087.1",
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.106-2062T>A",
"hgvs_p": null,
"transcript": "ENST00000625723.1",
"protein_id": "ENSP00000487128.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": -4,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.128-2062T>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.106-2062T>A",
"hgvs_p": null,
"transcript": "ENST00000512975.5",
"protein_id": "ENSP00000425751.1",
"transcript_support_level": 4,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"dbsnp": "rs1042392",
"frequency_reference_population": 6.8409935e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84099e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.052,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000280326.9",
"gene_symbol": "CCT5",
"hgnc_id": 1618,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.426T>A",
"hgvs_p": "p.Arg142Arg"
}
],
"clinvar_disease": "Hereditary sensory and autonomic neuropathy with spastic paraplegia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy with spastic paraplegia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}