← Back to variant description
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: 19-11441305-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11441305&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11441305,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000677123.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_001289104.2",
"protein_id": "NP_001276033.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 535,
"cds_start": 416,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "ENST00000677123.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000677123.1",
"protein_id": "ENSP00000503163.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 535,
"cds_start": 416,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "NM_001289104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000592741.5",
"protein_id": "ENSP00000466134.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 535,
"cds_start": 416,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000589838.5",
"protein_id": "ENSP00000465461.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 528,
"cds_start": 416,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_001289103.2",
"protein_id": "NP_001276032.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 535,
"cds_start": 416,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_001379608.1",
"protein_id": "NP_001366537.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 528,
"cds_start": 416,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_002743.3",
"protein_id": "NP_002734.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 528,
"cds_start": 416,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_001001329.3",
"protein_id": "NP_001001329.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 525,
"cds_start": 416,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_001289102.2",
"protein_id": "NP_001276031.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 525,
"cds_start": 416,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "NM_001379609.1",
"protein_id": "NP_001366538.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 525,
"cds_start": 416,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000587327.5",
"protein_id": "ENSP00000466012.1",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 525,
"cds_start": 416,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000591462.6",
"protein_id": "ENSP00000465489.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 525,
"cds_start": 416,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000676823.1",
"protein_id": "ENSP00000503072.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 170,
"cds_start": 416,
"cds_end": null,
"cds_length": 515,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000589126.5",
"protein_id": "ENSP00000467566.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 167,
"cds_start": 416,
"cds_end": null,
"cds_length": 505,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000593101.5",
"protein_id": "ENSP00000465047.1",
"transcript_support_level": 4,
"aa_start": 139,
"aa_end": null,
"aa_length": 143,
"cds_start": 416,
"cds_end": null,
"cds_length": 432,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.416G>A",
"hgvs_p": "p.Arg139His",
"transcript": "ENST00000587509.5",
"protein_id": "ENSP00000465821.1",
"transcript_support_level": 4,
"aa_start": 139,
"aa_end": null,
"aa_length": 139,
"cds_start": 416,
"cds_end": null,
"cds_length": 422,
"cdna_start": 539,
"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.*53G>A",
"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.*200G>A",
"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": "rs139991238",
"frequency_reference_population": 0.001762673,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2845,
"gnomad_exomes_af": 0.00181494,
"gnomad_genomes_af": 0.00126095,
"gnomad_exomes_ac": 2653,
"gnomad_genomes_ac": 192,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009291678667068481,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.335,
"phylop100way_prediction": "Uncertain_significance",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000677123.1",
"gene_symbol": "PRKCSH",
"hgnc_id": 9411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139His"
}
],
"clinvar_disease": "Polycystic liver disease 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2",
"phenotype_combined": "not provided|Polycystic liver disease 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}