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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: 20-8790185-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=8790185&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 8790185,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338037.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3347C>T",
"hgvs_p": "p.Ala1116Val",
"transcript": "NM_015192.4",
"protein_id": "NP_056007.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3347,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "ENST00000338037.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3347C>T",
"hgvs_p": "p.Ala1116Val",
"transcript": "ENST00000338037.11",
"protein_id": "ENSP00000338185.6",
"transcript_support_level": 1,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3347,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "NM_015192.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3347C>T",
"hgvs_p": "p.Ala1116Val",
"transcript": "ENST00000378637.6",
"protein_id": "ENSP00000367904.2",
"transcript_support_level": 1,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3347,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3347C>T",
"hgvs_p": "p.Ala1116Val",
"transcript": "ENST00000378641.7",
"protein_id": "ENSP00000367908.3",
"transcript_support_level": 1,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3347,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3861,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.2567C>T",
"hgvs_p": null,
"transcript": "ENST00000487210.5",
"protein_id": "ENSP00000431704.1",
"transcript_support_level": 1,
"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": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3347C>T",
"hgvs_p": "p.Ala1116Val",
"transcript": "NM_182734.3",
"protein_id": "NP_877398.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3347,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3044C>T",
"hgvs_p": "p.Ala1015Val",
"transcript": "ENST00000637919.1",
"protein_id": "ENSP00000490862.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1072,
"cds_start": 3044,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"transcript": "ENST00000628239.2",
"protein_id": "ENSP00000487544.1",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 230,
"cds_start": 605,
"cds_end": null,
"cds_length": 693,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ala14Val",
"transcript": "ENST00000437439.2",
"protein_id": "ENSP00000389911.2",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 41,
"cds_start": 41,
"cds_end": null,
"cds_length": 126,
"cdna_start": 41,
"cdna_end": null,
"cdna_length": 321,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.515C>T",
"hgvs_p": null,
"transcript": "ENST00000635929.1",
"protein_id": "ENSP00000490792.1",
"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": 2291,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-38C>T",
"hgvs_p": null,
"transcript": "ENST00000637935.1",
"protein_id": "ENSP00000490641.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "ENST00000637422.1",
"protein_id": "ENSP00000489643.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": -4,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"dbsnp": "rs148936543",
"frequency_reference_population": 0.0002765841,
"hom_count_reference_population": 0,
"allele_count_reference_population": 445,
"gnomad_exomes_af": 0.000288321,
"gnomad_genomes_af": 0.000164253,
"gnomad_exomes_ac": 420,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23899155855178833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.1366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.944,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000338037.11",
"gene_symbol": "PLCB1",
"hgnc_id": 15917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3347C>T",
"hgvs_p": "p.Ala1116Val"
}
],
"clinvar_disease": " 12,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Developmental and epileptic encephalopathy, 12|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}