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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: 21-39187403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39187403&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39187403,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018963.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.6586G>A",
"hgvs_p": "p.Asp2196Asn",
"transcript": "ENST00000333229.6",
"protein_id": "ENSP00000330753.2",
"transcript_support_level": 1,
"aa_start": 2196,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6586,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.*8856G>A",
"hgvs_p": null,
"transcript": "NM_033656.4",
"protein_id": "NP_387505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2269,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.*8856G>A",
"hgvs_p": null,
"transcript": "ENST00000342449.8",
"protein_id": "ENSP00000344333.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2269,
"cds_start": null,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.6586G>A",
"hgvs_p": "p.Asp2196Asn",
"transcript": "NM_018963.5",
"protein_id": "NP_061836.2",
"transcript_support_level": null,
"aa_start": 2196,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6586,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.6442G>A",
"hgvs_p": "p.Asp2148Asn",
"transcript": "XM_011529611.2",
"protein_id": "XP_011527913.1",
"transcript_support_level": null,
"aa_start": 2148,
"aa_end": null,
"aa_length": 2272,
"cds_start": 6442,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.6325G>A",
"hgvs_p": "p.Asp2109Asn",
"transcript": "XM_017028373.2",
"protein_id": "XP_016883862.1",
"transcript_support_level": null,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2233,
"cds_start": 6325,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.5746G>A",
"hgvs_p": "p.Asp1916Asn",
"transcript": "XM_011529612.2",
"protein_id": "XP_011527914.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2040,
"cds_start": 5746,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "c.3619G>A",
"hgvs_p": "p.Asp1207Asn",
"transcript": "XM_011529613.2",
"protein_id": "XP_011527915.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3619,
"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": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "n.*2910G>A",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRWD1",
"gene_hgnc_id": 12760,
"hgvs_c": "n.*2910G>A",
"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": 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.143+3329C>T",
"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": "rs146778195",
"frequency_reference_population": 0.000106636515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 166,
"gnomad_exomes_af": 0.0000569628,
"gnomad_genomes_af": 0.000564808,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 86,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006148576736450195,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.0926,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.319,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_018963.5",
"gene_symbol": "BRWD1",
"hgnc_id": 12760,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6586G>A",
"hgvs_p": "p.Asp2196Asn"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000751567.1",
"gene_symbol": "ENSG00000297893",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.143+3329C>T",
"hgvs_p": null
}
],
"clinvar_disease": "BRWD1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "BRWD1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}