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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: 14-94174520-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94174520&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP4R4",
"hgnc_id": 23788,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_058237.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.1778,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24887147545814514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 873,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 199,
"cds_end": null,
"cds_length": 2622,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_058237.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304338.8",
"protein_coding": true,
"protein_id": "NP_478144.1",
"strand": true,
"transcript": "NM_058237.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 873,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 199,
"cds_end": null,
"cds_length": 2622,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000304338.8",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_058237.2",
"protein_coding": true,
"protein_id": "ENSP00000305924.3",
"strand": true,
"transcript": "ENST00000304338.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 120,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": 183,
"cds_end": null,
"cds_length": 363,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000328839.3",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330831.3",
"strand": true,
"transcript": "ENST00000328839.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 866,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 172,
"cds_end": null,
"cds_length": 2601,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000903467.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573526.1",
"strand": true,
"transcript": "ENST00000903467.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 844,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": 165,
"cds_end": null,
"cds_length": 2535,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000941299.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611358.1",
"strand": true,
"transcript": "ENST00000941299.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 208,
"cds_end": null,
"cds_length": 2523,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000924614.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594673.1",
"strand": true,
"transcript": "ENST00000924614.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 832,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 209,
"cds_end": null,
"cds_length": 2499,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000924613.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594672.1",
"strand": true,
"transcript": "ENST00000924613.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 153,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": 199,
"cds_end": null,
"cds_length": 462,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001348145.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335074.1",
"strand": true,
"transcript": "NM_001348145.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 120,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 199,
"cds_end": null,
"cds_length": 363,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_020958.3",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066009.2",
"strand": true,
"transcript": "NM_020958.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001348143.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.-638G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335072.1",
"strand": true,
"transcript": "NM_001348143.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001348144.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.-371G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335073.1",
"strand": true,
"transcript": "NM_001348144.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 61,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": 188,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556884.5",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.-126-1534G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452121.1",
"strand": true,
"transcript": "ENST00000556884.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000555690.5",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "n.209G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555690.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NR_145441.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "n.199G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_145441.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs767422611",
"effect": "missense_variant",
"frequency_reference_population": 0.0000037213688,
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000342414,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657505,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.733,
"pos": 94174520,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.123,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_058237.2"
}
]
}