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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: 5-10258415-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10258415&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10258415,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000280326.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Leu251Leu",
"transcript": "NM_012073.5",
"protein_id": "NP_036205.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 541,
"cds_start": 753,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "ENST00000280326.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Leu251Leu",
"transcript": "ENST00000280326.9",
"protein_id": "ENSP00000280326.4",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 541,
"cds_start": 753,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "NM_012073.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Leu230Leu",
"transcript": "NM_001306153.1",
"protein_id": "NP_001293082.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 520,
"cds_start": 690,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Leu230Leu",
"transcript": "ENST00000503026.5",
"protein_id": "ENSP00000423318.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 520,
"cds_start": 690,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Leu213Leu",
"transcript": "NM_001306156.2",
"protein_id": "NP_001293085.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 503,
"cds_start": 639,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Leu213Leu",
"transcript": "ENST00000515676.5",
"protein_id": "ENSP00000427297.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 503,
"cds_start": 639,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.588C>T",
"hgvs_p": "p.Leu196Leu",
"transcript": "NM_001306154.2",
"protein_id": "NP_001293083.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 486,
"cds_start": 588,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.588C>T",
"hgvs_p": "p.Leu196Leu",
"transcript": "ENST00000515390.5",
"protein_id": "ENSP00000426923.1",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 486,
"cds_start": 588,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "NM_001306155.2",
"protein_id": "NP_001293084.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 474,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "ENST00000506600.1",
"protein_id": "ENSP00000423052.1",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 474,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 838,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.350C>T",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*454C>T",
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000509846.1",
"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": 546,
"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.*193C>T",
"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
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.448C>T",
"hgvs_p": null,
"transcript": "ENST00000514674.5",
"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": 568,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*454C>T",
"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.*193C>T",
"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
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"hgvs_c": "n.*483C>T",
"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
}
],
"gene_symbol": "CCT5",
"gene_hgnc_id": 1618,
"dbsnp": "rs755384536",
"frequency_reference_population": 0.00014435539,
"hom_count_reference_population": 0,
"allele_count_reference_population": 233,
"gnomad_exomes_af": 0.000149123,
"gnomad_genomes_af": 0.0000985597,
"gnomad_exomes_ac": 218,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.041,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000280326.9",
"gene_symbol": "CCT5",
"hgnc_id": 1618,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Leu251Leu"
}
],
"clinvar_disease": "Hereditary sensory and autonomic neuropathy with spastic paraplegia,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Hereditary sensory and autonomic neuropathy with spastic paraplegia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}