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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: 19-45380190-CT-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45380190&ref=CT&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45380190,
"ref": "CT",
"alt": "GA",
"effect": "stop_lost",
"transcript": "NM_006663.4",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "NM_006663.4",
"protein_id": "NP_006654.2",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": "ENST00000360957.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006663.4"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000360957.10",
"protein_id": "ENSP00000354218.4",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": "NM_006663.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360957.10"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000418234.6",
"protein_id": "ENSP00000403902.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418234.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "n.1959_1960delAGinsTC",
"hgvs_p": null,
"transcript": "ENST00000587270.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587270.5"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "NM_001142502.2",
"protein_id": "NP_001135974.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142502.2"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000863739.1",
"protein_id": "ENSP00000533798.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863739.1"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000863740.1",
"protein_id": "ENSP00000533799.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863740.1"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000863741.1",
"protein_id": "ENSP00000533800.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863741.1"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000863742.1",
"protein_id": "ENSP00000533801.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863742.1"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000863743.1",
"protein_id": "ENSP00000533802.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863743.1"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "ENST00000863744.1",
"protein_id": "ENSP00000533803.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863744.1"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "XM_017026177.2",
"protein_id": "XP_016881666.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026177.2"
},
{
"aa_ref": "*",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?",
"transcript": "XM_017026178.2",
"protein_id": "XP_016881667.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 828,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026178.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.*6_*7delAGinsTC",
"hgvs_p": null,
"transcript": "ENST00000591986.1",
"protein_id": "ENSP00000466939.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": null,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"hgvs_c": "c.67-265_67-264delAGinsTC",
"hgvs_p": null,
"transcript": "ENST00000589371.1",
"protein_id": "ENSP00000466555.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589371.1"
}
],
"gene_symbol": "PPP1R13L",
"gene_hgnc_id": 18838,
"dbsnp": "rs1972735240",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.564,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM4",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006663.4",
"gene_symbol": "PPP1R13L",
"hgnc_id": 18838,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2486_2487delAGinsTC",
"hgvs_p": "p.Ter829Pheext*?"
}
],
"clinvar_disease": "Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities,Primary dilated cardiomyopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Primary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}