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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: 19-11447525-A-AGAGGAGGAGGAGGAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11447525&ref=A&alt=AGAGGAGGAGGAGGAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11447525,
"ref": "A",
"alt": "AGAGGAGGAGGAGGAG",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000677123.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_001289104.2",
"protein_id": "NP_001276033.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 535,
"cds_start": 969,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "ENST00000677123.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "ENST00000677123.1",
"protein_id": "ENSP00000503163.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 535,
"cds_start": 969,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "NM_001289104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "ENST00000592741.5",
"protein_id": "ENSP00000466134.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 535,
"cds_start": 969,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "ENST00000589838.5",
"protein_id": "ENSP00000465461.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 528,
"cds_start": 969,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_001289103.2",
"protein_id": "NP_001276032.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 535,
"cds_start": 969,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_001379608.1",
"protein_id": "NP_001366537.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 528,
"cds_start": 969,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_002743.3",
"protein_id": "NP_002734.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 528,
"cds_start": 969,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_001001329.3",
"protein_id": "NP_001001329.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 525,
"cds_start": 969,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_001289102.2",
"protein_id": "NP_001276031.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 525,
"cds_start": 969,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "NM_001379609.1",
"protein_id": "NP_001366538.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 525,
"cds_start": 969,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "ENST00000587327.5",
"protein_id": "ENSP00000466012.1",
"transcript_support_level": 2,
"aa_start": 323,
"aa_end": null,
"aa_length": 525,
"cds_start": 969,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup",
"transcript": "ENST00000591462.6",
"protein_id": "ENSP00000465489.1",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 525,
"cds_start": 969,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2063,
"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": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "n.227_241dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000585325.5",
"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": 598,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "n.145_159dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000585540.1",
"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": 501,
"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": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "n.201_215dupGGAGGAGGAGGAGGA",
"hgvs_p": null,
"transcript": "ENST00000592445.1",
"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": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "n.-40_-39insGAGGAGGAGGAGGAG",
"hgvs_p": null,
"transcript": "ENST00000586486.1",
"protein_id": "ENSP00000465948.1",
"transcript_support_level": 1,
"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": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"dbsnp": "rs3217229",
"frequency_reference_population": 0.0000075765897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.000006972,
"gnomad_genomes_af": 0.0000133763,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.523,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "ENST00000677123.1",
"gene_symbol": "PRKCSH",
"hgnc_id": 9411,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.954_968dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu319_Glu323dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}