← Back to variant description
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: 14-94265573-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94265573&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPP4R4",
"hgnc_id": 23788,
"hgvs_c": "c.2284+100A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_058237.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 206745,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 873,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2622,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_058237.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2284+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"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": null,
"aa_end": null,
"aa_length": 873,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2622,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304338.8",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2284+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"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": null,
"aa_end": null,
"aa_length": 866,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903467.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2263+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"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": null,
"aa_end": null,
"aa_length": 844,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": null,
"cds_end": null,
"cds_length": 2535,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941299.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2198-221A>G",
"hgvs_p": null,
"intron_rank": 20,
"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": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924614.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2185+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"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": null,
"aa_end": null,
"aa_length": 832,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 2499,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924613.1",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2161+100A>G",
"hgvs_p": null,
"intron_rank": 20,
"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": null,
"aa_end": null,
"aa_length": 792,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": null,
"cds_end": null,
"cds_length": 2379,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348142.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2041+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335071.1",
"strand": true,
"transcript": "NM_001348142.2",
"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": 4228,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348143.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.1963+100A>G",
"hgvs_p": null,
"intron_rank": 23,
"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": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348144.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.1963+100A>G",
"hgvs_p": null,
"intron_rank": 22,
"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": 792,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": null,
"cds_end": null,
"cds_length": 2379,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449672.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2041+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305440.1",
"strand": true,
"transcript": "XM_024449672.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": null,
"cds_end": null,
"cds_length": 2361,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021528.3",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.2023+100A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877017.1",
"strand": true,
"transcript": "XM_017021528.3",
"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": 3608,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537039.3",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.1963+100A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535341.1",
"strand": true,
"transcript": "XM_011537039.3",
"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": 3515,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537040.3",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.1963+100A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535342.1",
"strand": true,
"transcript": "XM_011537040.3",
"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": 3503,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449673.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "c.1963+100A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305441.1",
"strand": true,
"transcript": "XM_024449673.2",
"transcript_support_level": null
},
{
"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": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_145441.2",
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"hgvs_c": "n.2454+100A>G",
"hgvs_p": null,
"intron_rank": 21,
"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": "rs1107110",
"effect": "intron_variant",
"frequency_reference_population": 0.19528675,
"gene_hgnc_id": 23788,
"gene_symbol": "PPP4R4",
"gnomad_exomes_ac": 175649,
"gnomad_exomes_af": 0.193743,
"gnomad_exomes_homalt": 20474,
"gnomad_genomes_ac": 31096,
"gnomad_genomes_af": 0.20449,
"gnomad_genomes_homalt": 3696,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 24170,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.198,
"pos": 94265573,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"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"
}
]
}