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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: 19-6364489-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6364489&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6364489,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000245816.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.405G>C",
"hgvs_p": "p.Thr135Thr",
"transcript": "NM_006012.4",
"protein_id": "NP_006003.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 277,
"cds_start": 405,
"cds_end": null,
"cds_length": 834,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "ENST00000245816.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.405G>C",
"hgvs_p": "p.Thr135Thr",
"transcript": "ENST00000245816.11",
"protein_id": "ENSP00000245816.3",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 277,
"cds_start": 405,
"cds_end": null,
"cds_length": 834,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "NM_006012.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Asp72His",
"transcript": "ENST00000597326.6",
"protein_id": "ENSP00000470098.2",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 142,
"cds_start": 214,
"cds_end": null,
"cds_length": 429,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.405G>C",
"hgvs_p": "p.Thr135Thr",
"transcript": "ENST00000715787.1",
"protein_id": "ENSP00000520519.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 277,
"cds_start": 405,
"cds_end": null,
"cds_length": 834,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.144G>C",
"hgvs_p": "p.Thr48Thr",
"transcript": "ENST00000596149.5",
"protein_id": "ENSP00000472227.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 190,
"cds_start": 144,
"cds_end": null,
"cds_length": 573,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.501G>C",
"hgvs_p": "p.Thr167Thr",
"transcript": "XM_047439486.1",
"protein_id": "XP_047295442.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 309,
"cds_start": 501,
"cds_end": null,
"cds_length": 930,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 2506,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "n.306G>C",
"hgvs_p": null,
"transcript": "ENST00000594780.1",
"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": 1007,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "n.920G>C",
"hgvs_p": null,
"transcript": "ENST00000596070.1",
"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": 1346,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.149-1769G>C",
"hgvs_p": null,
"transcript": "ENST00000596605.2",
"protein_id": "ENSP00000469124.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 621,
"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": "CLPP",
"gene_hgnc_id": 2084,
"hgvs_c": "c.-79G>C",
"hgvs_p": null,
"transcript": "ENST00000646643.1",
"protein_id": "ENSP00000494298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": -4,
"cds_end": null,
"cds_length": 102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLPP",
"gene_hgnc_id": 2084,
"dbsnp": "rs7260547",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.165,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000245816.11",
"gene_symbol": "CLPP",
"hgnc_id": 2084,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.405G>C",
"hgvs_p": "p.Thr135Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}