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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: 22-23833700-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23833700&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23833700,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000644036.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Thr372Met",
"transcript": "NM_003073.5",
"protein_id": "NP_003064.2",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 385,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "ENST00000644036.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Thr372Met",
"transcript": "ENST00000644036.2",
"protein_id": "ENSP00000494049.2",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 385,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "NM_003073.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Thr363Met",
"transcript": "ENST00000407422.8",
"protein_id": "ENSP00000383984.3",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 376,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Thr326Met",
"transcript": "ENST00000263121.12",
"protein_id": "ENSP00000263121.8",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 339,
"cds_start": 977,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1169C>T",
"hgvs_p": "p.Thr390Met",
"transcript": "NM_001362877.2",
"protein_id": "NP_001349806.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 403,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Thr381Met",
"transcript": "NM_001317946.2",
"protein_id": "NP_001304875.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 394,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Thr381Met",
"transcript": "ENST00000344921.11",
"protein_id": "ENSP00000340883.6",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 394,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Thr363Met",
"transcript": "NM_001007468.3",
"protein_id": "NP_001007469.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 376,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 5164,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*1182C>T",
"hgvs_p": null,
"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
"transcript_support_level": null,
"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": 2054,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.2437C>T",
"hgvs_p": null,
"transcript": "ENST00000645799.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2653,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.3461C>T",
"hgvs_p": null,
"transcript": "ENST00000646723.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3594,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*609C>T",
"hgvs_p": null,
"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
"transcript_support_level": null,
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*1182C>T",
"hgvs_p": null,
"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
"transcript_support_level": null,
"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": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*609C>T",
"hgvs_p": null,
"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
"transcript_support_level": null,
"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": 1401,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*113C>T",
"hgvs_p": null,
"transcript": "ENST00000477836.2",
"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": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"dbsnp": "rs992198711",
"frequency_reference_population": 0.000004337223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342059,
"gnomad_genomes_af": 0.0000131404,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7594267129898071,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.582,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.655,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644036.2",
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Thr372Met"
}
],
"clinvar_disease": " autosomal dominant 15,Hereditary cancer-predisposing syndrome,Intellectual disability,Rhabdoid tumor predisposition syndrome 1,SMARCB1-related schwannomatosis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 15;Rhabdoid tumor predisposition syndrome 1;SMARCB1-related schwannomatosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}