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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: 20-8132482-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=8132482&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 8132482,
"ref": "C",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_015192.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "NM_015192.4",
"protein_id": "NP_056007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "ENST00000338037.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000338037.11",
"protein_id": "ENSP00000338185.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "NM_015192.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000378641.7",
"protein_id": "ENSP00000367908.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000629992.2",
"protein_id": "ENSP00000486531.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3095,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000636319.1",
"protein_id": "ENSP00000490455.1",
"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": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "NM_182734.3",
"protein_id": "NP_877398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000636319.1",
"protein_id": "ENSP00000490455.1",
"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": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-204-17812C>A",
"hgvs_p": null,
"transcript": "ENST00000637919.1",
"protein_id": "ENSP00000490862.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": -4,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-204-17812C>A",
"hgvs_p": null,
"transcript": "ENST00000625874.2",
"protein_id": "ENSP00000486301.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-282-9389C>A",
"hgvs_p": null,
"transcript": "ENST00000630495.2",
"protein_id": "ENSP00000486655.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000378637.6",
"protein_id": "ENSP00000367904.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000404098.6",
"protein_id": "ENSP00000384001.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": -4,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1260,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.-34C>A",
"hgvs_p": null,
"transcript": "ENST00000626161.1",
"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": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"dbsnp": "rs139962835",
"frequency_reference_population": 0.04321793,
"hom_count_reference_population": 425,
"allele_count_reference_population": 15302,
"gnomad_exomes_af": 0.0460493,
"gnomad_genomes_af": 0.0394399,
"gnomad_exomes_ac": 9320,
"gnomad_genomes_ac": 5982,
"gnomad_exomes_homalt": 277,
"gnomad_genomes_homalt": 148,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.36,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_015192.4",
"gene_symbol": "PLCB1",
"hgnc_id": 15917,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-170C>A",
"hgvs_p": null
}
],
"clinvar_disease": " 12,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 12|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}