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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: 21-39218552-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39218552&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39218552,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "NM_018963.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs",
"transcript": "NM_033656.4",
"protein_id": "NP_387505.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 2269,
"cds_start": 3490,
"cds_end": null,
"cds_length": 6810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342449.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033656.4"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs",
"transcript": "ENST00000342449.8",
"protein_id": "ENSP00000344333.3",
"transcript_support_level": 1,
"aa_start": 1164,
"aa_end": null,
"aa_length": 2269,
"cds_start": 3490,
"cds_end": null,
"cds_length": 6810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033656.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342449.8"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs",
"transcript": "ENST00000333229.6",
"protein_id": "ENSP00000330753.2",
"transcript_support_level": 1,
"aa_start": 1164,
"aa_end": null,
"aa_length": 2320,
"cds_start": 3490,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333229.6"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs",
"transcript": "ENST00000380800.7",
"protein_id": "ENSP00000370178.3",
"transcript_support_level": 1,
"aa_start": 1164,
"aa_end": null,
"aa_length": 2199,
"cds_start": 3490,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380800.7"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.445dupG",
"hgvs_p": "p.Glu149fs",
"transcript": "ENST00000424441.1",
"protein_id": "ENSP00000415066.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 450,
"cds_start": 445,
"cds_end": null,
"cds_length": 1355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424441.1"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs",
"transcript": "NM_018963.5",
"protein_id": "NP_061836.2",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 2320,
"cds_start": 3490,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018963.5"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3205dupG",
"hgvs_p": "p.Glu1069fs",
"transcript": "ENST00000938703.1",
"protein_id": "ENSP00000608762.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 2174,
"cds_start": 3205,
"cds_end": null,
"cds_length": 6525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938703.1"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3382dupG",
"hgvs_p": "p.Glu1128fs",
"transcript": "ENST00000938704.1",
"protein_id": "ENSP00000608763.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 2056,
"cds_start": 3382,
"cds_end": null,
"cds_length": 6171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938704.1"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs",
"transcript": "XM_011529611.2",
"protein_id": "XP_011527913.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 2272,
"cds_start": 3490,
"cds_end": null,
"cds_length": 6819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529611.2"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3229dupG",
"hgvs_p": "p.Glu1077fs",
"transcript": "XM_017028373.2",
"protein_id": "XP_016883862.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 2233,
"cds_start": 3229,
"cds_end": null,
"cds_length": 6702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028373.2"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.2650dupG",
"hgvs_p": "p.Glu884fs",
"transcript": "XM_011529612.2",
"protein_id": "XP_011527914.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 2040,
"cds_start": 2650,
"cds_end": null,
"cds_length": 6123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529612.2"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.523dupG",
"hgvs_p": "p.Glu175fs",
"transcript": "XM_011529613.2",
"protein_id": "XP_011527915.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1331,
"cds_start": 523,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529613.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "n.1882dupG",
"hgvs_p": null,
"transcript": "ENST00000446924.5",
"protein_id": "ENSP00000391014.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446924.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "n.108dupG",
"hgvs_p": null,
"transcript": "ENST00000473813.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRWD1-IT1",
"gene_hgnc_id": 41920,
"hgvs_c": "n.404+849dupG",
"hgvs_p": null,
"transcript": "ENST00000435608.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297893",
"gene_hgnc_id": null,
"hgvs_c": "n.144-29159dupC",
"hgvs_p": null,
"transcript": "ENST00000751567.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751567.1"
}
],
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"dbsnp": null,
"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": 4.351,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018963.5",
"gene_symbol": "BRWD1",
"hgnc_id": 12760,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3490dupG",
"hgvs_p": "p.Glu1164fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000435608.1",
"gene_symbol": "BRWD1-IT1",
"hgnc_id": 41920,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.404+849dupG",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000751567.1",
"gene_symbol": "ENSG00000297893",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144-29159dupC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}