← 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: 22-23825379-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23825379&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23825379,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000644036.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.951delA",
"hgvs_p": "p.Gln318fs",
"transcript": "NM_003073.5",
"protein_id": "NP_003064.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 385,
"cds_start": 951,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "ENST00000644036.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.951delA",
"hgvs_p": "p.Gln318fs",
"transcript": "ENST00000644036.2",
"protein_id": "ENSP00000494049.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 385,
"cds_start": 951,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "NM_003073.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.924delA",
"hgvs_p": "p.Gln309fs",
"transcript": "ENST00000407422.8",
"protein_id": "ENSP00000383984.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 376,
"cds_start": 924,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.813delA",
"hgvs_p": "p.Gln272fs",
"transcript": "ENST00000263121.12",
"protein_id": "ENSP00000263121.8",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 339,
"cds_start": 813,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.1005delA",
"hgvs_p": "p.Gln336fs",
"transcript": "NM_001362877.2",
"protein_id": "NP_001349806.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 403,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.978delA",
"hgvs_p": "p.Gln327fs",
"transcript": "NM_001317946.2",
"protein_id": "NP_001304875.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 394,
"cds_start": 978,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.978delA",
"hgvs_p": "p.Gln327fs",
"transcript": "ENST00000344921.11",
"protein_id": "ENSP00000340883.6",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 394,
"cds_start": 978,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.924delA",
"hgvs_p": "p.Gln309fs",
"transcript": "NM_001007468.3",
"protein_id": "NP_001007469.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 376,
"cds_start": 924,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1128,
"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": 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.2102delA",
"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
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*1018delA",
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.2273delA",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.3297delA",
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.863delA",
"hgvs_p": null,
"transcript": "ENST00000646911.1",
"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": 1731,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*445delA",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*1018delA",
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*445delA",
"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
}
],
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"dbsnp": "rs587776677",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.025,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000644036.2",
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.951delA",
"hgvs_p": "p.Gln318fs"
}
],
"clinvar_disease": " somatic,Malignant rhabdoid tumor",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Malignant rhabdoid tumor, somatic",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}