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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: 19-11441294-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11441294&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11441294,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000677123.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_001289104.2",
"protein_id": "NP_001276033.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 535,
"cds_start": 405,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "ENST00000677123.1",
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000677123.1",
"protein_id": "ENSP00000503163.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 535,
"cds_start": 405,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "NM_001289104.2",
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000592741.5",
"protein_id": "ENSP00000466134.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 535,
"cds_start": 405,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2100,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000589838.5",
"protein_id": "ENSP00000465461.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 528,
"cds_start": 405,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1898,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_001289103.2",
"protein_id": "NP_001276032.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 535,
"cds_start": 405,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2100,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_001379608.1",
"protein_id": "NP_001366537.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 528,
"cds_start": 405,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2079,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_002743.3",
"protein_id": "NP_002734.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 528,
"cds_start": 405,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2065,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_001001329.3",
"protein_id": "NP_001001329.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 525,
"cds_start": 405,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2066,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_001289102.2",
"protein_id": "NP_001276031.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 525,
"cds_start": 405,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1962,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "NM_001379609.1",
"protein_id": "NP_001366538.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 525,
"cds_start": 405,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2070,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000587327.5",
"protein_id": "ENSP00000466012.1",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 525,
"cds_start": 405,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2189,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000591462.6",
"protein_id": "ENSP00000465489.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 525,
"cds_start": 405,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2063,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000676823.1",
"protein_id": "ENSP00000503072.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 170,
"cds_start": 405,
"cds_end": null,
"cds_length": 515,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 814,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000589126.5",
"protein_id": "ENSP00000467566.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 167,
"cds_start": 405,
"cds_end": null,
"cds_length": 505,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 625,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000593101.5",
"protein_id": "ENSP00000465047.1",
"transcript_support_level": 4,
"aa_start": 135,
"aa_end": null,
"aa_length": 143,
"cds_start": 405,
"cds_end": null,
"cds_length": 432,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 578,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg",
"transcript": "ENST00000587509.5",
"protein_id": "ENSP00000465821.1",
"transcript_support_level": 4,
"aa_start": 135,
"aa_end": null,
"aa_length": 139,
"cds_start": 405,
"cds_end": null,
"cds_length": 422,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 545,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "n.*42C>T",
"hgvs_p": null,
"transcript": "ENST00000593053.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 588,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "n.*189C>T",
"hgvs_p": null,
"transcript": "ENST00000593104.5",
"protein_id": null,
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"dbsnp": "rs746346745",
"frequency_reference_population": 0.0000041044277,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410443,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.304,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000677123.1",
"gene_symbol": "PRKCSH",
"hgnc_id": 9411,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.405C>T",
"hgvs_p": "p.Arg135Arg"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}