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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: 11-117204850-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117204850&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117204850,
"ref": "C",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000320934.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1147G>T",
"hgvs_p": null,
"transcript": "NM_004716.4",
"protein_id": "NP_004707.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": "ENST00000320934.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1147G>T",
"hgvs_p": null,
"transcript": "ENST00000320934.8",
"protein_id": "ENSP00000325917.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": "NM_004716.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.*491C>A",
"hgvs_p": null,
"transcript": "NM_003186.5",
"protein_id": "NP_003177.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": "ENST00000392951.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.*491C>A",
"hgvs_p": null,
"transcript": "ENST00000392951.9",
"protein_id": "ENSP00000376678.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": "NM_003186.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.*491C>A",
"hgvs_p": null,
"transcript": "NM_001001522.2",
"protein_id": "NP_001001522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1147G>T",
"hgvs_p": null,
"transcript": "XM_006718940.5",
"protein_id": "XP_006719003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.*491C>A",
"hgvs_p": null,
"transcript": "ENST00000278968.10",
"protein_id": "ENSP00000278968.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.*491C>A",
"hgvs_p": null,
"transcript": "ENST00000530649.5",
"protein_id": "ENSP00000431941.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.*491C>A",
"hgvs_p": null,
"transcript": "ENST00000532870.5",
"protein_id": "ENSP00000432282.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2166,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "n.*90C>A",
"hgvs_p": null,
"transcript": "ENST00000533863.1",
"protein_id": null,
"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": 3298,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280143",
"gene_hgnc_id": null,
"hgvs_c": "n.-117C>A",
"hgvs_p": null,
"transcript": "ENST00000624094.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1147G>T",
"hgvs_p": null,
"transcript": "ENST00000524507.6",
"protein_id": "ENSP00000433841.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1147G>T",
"hgvs_p": null,
"transcript": "ENST00000676339.1",
"protein_id": "ENSP00000501995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3367,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "n.*224G>T",
"hgvs_p": null,
"transcript": "ENST00000534529.5",
"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": 5393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1941G>T",
"hgvs_p": null,
"transcript": "XM_047427861.1",
"protein_id": "XP_047283817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*2266G>T",
"hgvs_p": null,
"transcript": "XM_047427864.1",
"protein_id": "XP_047283820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1907G>T",
"hgvs_p": null,
"transcript": "XM_047427866.1",
"protein_id": "XP_047283822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"dbsnp": "rs508487",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.284,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000320934.8",
"gene_symbol": "PCSK7",
"hgnc_id": 8748,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1147G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392951.9",
"gene_symbol": "TAGLN",
"hgnc_id": 11553,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*491C>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000624094.1",
"gene_symbol": "ENSG00000280143",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-117C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}