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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: 19-5748176-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5748176&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5748176,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_152784.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "NM_152784.4",
"protein_id": "NP_689997.3",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 798,
"cds_start": 825,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381624.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152784.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "ENST00000381624.4",
"protein_id": "ENSP00000371037.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 798,
"cds_start": 825,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152784.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381624.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "XM_011527885.4",
"protein_id": "XP_011526187.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 864,
"cds_start": 825,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527885.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.771C>A",
"hgvs_p": "p.Thr257Thr",
"transcript": "XM_011527886.4",
"protein_id": "XP_011526188.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 846,
"cds_start": 771,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527886.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.741C>A",
"hgvs_p": "p.Thr247Thr",
"transcript": "XM_017026564.3",
"protein_id": "XP_016882053.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 836,
"cds_start": 741,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026564.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "XM_011527887.4",
"protein_id": "XP_011526189.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 821,
"cds_start": 825,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527887.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.603C>A",
"hgvs_p": "p.Thr201Thr",
"transcript": "XM_017026565.2",
"protein_id": "XP_016882054.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 790,
"cds_start": 603,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026565.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "XM_047438564.1",
"protein_id": "XP_047294520.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 755,
"cds_start": 825,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438564.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "XM_011527888.4",
"protein_id": "XP_011526190.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 649,
"cds_start": 825,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527888.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "XM_011527889.4",
"protein_id": "XP_011526191.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 590,
"cds_start": 825,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527889.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr",
"transcript": "XM_011527890.4",
"protein_id": "XP_011526192.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 547,
"cds_start": 825,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527890.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.-119C>A",
"hgvs_p": null,
"transcript": "XM_011527891.1",
"protein_id": "XP_011526193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527891.1"
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"hgvs_c": "c.574-3471C>A",
"hgvs_p": null,
"transcript": "XM_017026566.3",
"protein_id": "XP_016882055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": null,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026566.3"
}
],
"gene_symbol": "CATSPERD",
"gene_hgnc_id": 28598,
"dbsnp": "rs758138933",
"frequency_reference_population": 0.0000013682062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136821,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.667,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_152784.4",
"gene_symbol": "CATSPERD",
"hgnc_id": 28598,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.825C>A",
"hgvs_p": "p.Thr275Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}