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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: 20-4699379-CGGTGGTGGCTGGGGGCAGCCTCAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=4699379&ref=CGGTGGTGGCTGGGGGCAGCCTCAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 4699379,
"ref": "CGGTGGTGGCTGGGGGCAGCCTCAT",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001271561.3",
"consequences": [
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "NM_000311.5",
"protein_id": "NP_000302.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379440.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000311.5"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000379440.9",
"protein_id": "ENSP00000368752.4",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000311.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379440.9"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000424424.2",
"protein_id": "ENSP00000411599.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424424.2"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000430350.2",
"protein_id": "ENSP00000399376.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430350.2"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000457586.2",
"protein_id": "ENSP00000415284.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457586.2"
},
{
"aa_ref": "SWWWLGAA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.115_138delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.Ser39_Ala46del",
"transcript": "NM_001271561.3",
"protein_id": "NP_001258490.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 73,
"cds_start": 115,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271561.3"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "NM_001080121.3",
"protein_id": "NP_001073590.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080121.3"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "NM_001080122.3",
"protein_id": "NP_001073591.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080122.3"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "NM_001080123.3",
"protein_id": "NP_001073592.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080123.3"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "NM_183079.4",
"protein_id": "NP_898902.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183079.4"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000882184.1",
"protein_id": "ENSP00000552243.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882184.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000882185.1",
"protein_id": "ENSP00000552244.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882185.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000882186.1",
"protein_id": "ENSP00000552245.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882186.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000882187.1",
"protein_id": "ENSP00000552246.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882187.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000882188.1",
"protein_id": "ENSP00000552247.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882188.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000967833.1",
"protein_id": "ENSP00000637892.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967833.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000967834.1",
"protein_id": "ENSP00000637893.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967834.1"
},
{
"aa_ref": "PHGGGWGQP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"hgvs_c": "c.204_227delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.His69_Pro76del",
"transcript": "ENST00000967835.1",
"protein_id": "ENSP00000637894.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 253,
"cds_start": 204,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967835.1"
}
],
"gene_symbol": "PRNP",
"gene_hgnc_id": 9449,
"dbsnp": "rs193922906",
"frequency_reference_population": 0.0007345794,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1185,
"gnomad_exomes_af": 0.000683553,
"gnomad_genomes_af": 0.00122622,
"gnomad_exomes_ac": 999,
"gnomad_genomes_ac": 186,
"gnomad_exomes_homalt": 7,
"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": 3.051,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "PM4,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 16,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001271561.3",
"gene_symbol": "PRNP",
"hgnc_id": 9449,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.115_138delTCATGGTGGTGGCTGGGGGCAGCC",
"hgvs_p": "p.Ser39_Ala46del"
}
],
"clinvar_disease": "6 conditions,Huntington disease-like 1,Inherited prion disease,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "Inherited prion disease|Huntington disease-like 1|not provided|6 conditions",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}