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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: 14-94275415-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94275415&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94275415,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000304338.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2491T>G",
"hgvs_p": "p.Ser831Ala",
"transcript": "NM_058237.2",
"protein_id": "NP_478144.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 873,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": "ENST00000304338.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2491T>G",
"hgvs_p": "p.Ser831Ala",
"transcript": "ENST00000304338.8",
"protein_id": "ENSP00000305924.3",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 873,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": "NM_058237.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2248T>G",
"hgvs_p": "p.Ser750Ala",
"transcript": "NM_001348142.2",
"protein_id": "NP_001335071.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 792,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2170T>G",
"hgvs_p": "p.Ser724Ala",
"transcript": "NM_001348143.2",
"protein_id": "NP_001335072.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 766,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2170T>G",
"hgvs_p": "p.Ser724Ala",
"transcript": "NM_001348144.2",
"protein_id": "NP_001335073.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 766,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2739,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2248T>G",
"hgvs_p": "p.Ser750Ala",
"transcript": "XM_024449672.2",
"protein_id": "XP_024305440.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 792,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2230T>G",
"hgvs_p": "p.Ser744Ala",
"transcript": "XM_017021528.3",
"protein_id": "XP_016877017.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 786,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2170T>G",
"hgvs_p": "p.Ser724Ala",
"transcript": "XM_011537039.3",
"protein_id": "XP_011535341.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 766,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2170T>G",
"hgvs_p": "p.Ser724Ala",
"transcript": "XM_011537040.3",
"protein_id": "XP_011535342.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 766,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.2170T>G",
"hgvs_p": "p.Ser724Ala",
"transcript": "XM_024449673.2",
"protein_id": "XP_024305441.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 766,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 3503,
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "n.2661T>G",
"hgvs_p": null,
"transcript": "NR_145441.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"dbsnp": "rs201604534",
"frequency_reference_population": 0.0000065671093,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656711,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028643101453781128,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0624,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.181,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000304338.8",
"gene_symbol": "PPP4R4",
"hgnc_id": 23788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2491T>G",
"hgvs_p": "p.Ser831Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}