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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: 10-53806911-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53806911&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53806911,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000644397.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4891C>T",
"hgvs_p": "p.Leu1631Leu",
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 5226,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4891C>T",
"hgvs_p": "p.Leu1631Leu",
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 5226,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4696C>T",
"hgvs_p": "p.Leu1566Leu",
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4696,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 5091,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4825C>T",
"hgvs_p": "p.Leu1609Leu",
"transcript": "NM_001354429.2",
"protein_id": "NP_001341358.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1718,
"cds_start": 4825,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 9300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4717C>T",
"hgvs_p": "p.Leu1573Leu",
"transcript": "NM_001142771.2",
"protein_id": "NP_001136243.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1682,
"cds_start": 4717,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 5052,
"cdna_end": null,
"cdna_length": 9192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4717C>T",
"hgvs_p": "p.Leu1573Leu",
"transcript": "ENST00000621708.4",
"protein_id": "ENSP00000484454.1",
"transcript_support_level": 5,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1682,
"cds_start": 4717,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 5112,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4702C>T",
"hgvs_p": "p.Leu1568Leu",
"transcript": "NM_001142772.2",
"protein_id": "NP_001136244.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1677,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5034,
"cdna_start": 5037,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4702C>T",
"hgvs_p": "p.Leu1568Leu",
"transcript": "ENST00000373965.6",
"protein_id": "ENSP00000363076.3",
"transcript_support_level": 5,
"aa_start": 1568,
"aa_end": null,
"aa_length": 1677,
"cds_start": 4702,
"cds_end": null,
"cds_length": 5034,
"cdna_start": 5097,
"cdna_end": null,
"cdna_length": 9237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4696C>T",
"hgvs_p": "p.Leu1566Leu",
"transcript": "NM_001354420.2",
"protein_id": "NP_001341349.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4696,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 5031,
"cdna_end": null,
"cdna_length": 9171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3748C>T",
"hgvs_p": "p.Leu1250Leu",
"transcript": "ENST00000642496.1",
"protein_id": "ENSP00000495930.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3748,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Leu351Leu",
"transcript": "ENST00000618301.4",
"protein_id": "ENSP00000482780.1",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 460,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Leu307Leu",
"transcript": "ENST00000495484.5",
"protein_id": "ENSP00000480780.1",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 416,
"cds_start": 919,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4687C>T",
"hgvs_p": "p.Leu1563Leu",
"transcript": "XM_047425663.1",
"protein_id": "XP_047281619.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4687,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 5022,
"cdna_end": null,
"cdna_length": 9162,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.*75C>T",
"hgvs_p": null,
"transcript": "ENST00000476074.5",
"protein_id": null,
"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": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"dbsnp": "rs200155519",
"frequency_reference_population": 0.0005836836,
"hom_count_reference_population": 1,
"allele_count_reference_population": 942,
"gnomad_exomes_af": 0.000512433,
"gnomad_genomes_af": 0.00126779,
"gnomad_exomes_ac": 749,
"gnomad_genomes_ac": 193,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.435,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644397.2",
"gene_symbol": "PCDH15",
"hgnc_id": 14674,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4891C>T",
"hgvs_p": "p.Leu1631Leu"
}
],
"clinvar_disease": "PCDH15-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not provided|not specified|PCDH15-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}