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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: 5-134221625-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134221625&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134221625,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000481195.6",
"consequences": [
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null,
"transcript": "NM_002715.4",
"protein_id": "NP_002706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": -4,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": "ENST00000481195.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null,
"transcript": "ENST00000481195.6",
"protein_id": "ENSP00000418447.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": -4,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": "NM_002715.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272772",
"gene_hgnc_id": null,
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null,
"transcript": "ENST00000519718.2",
"protein_id": "ENSP00000430774.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.*74-15494T>A",
"hgvs_p": null,
"transcript": "ENST00000703317.1",
"protein_id": "ENSP00000515260.1",
"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": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null,
"transcript": "ENST00000703354.2",
"protein_id": "ENSP00000515268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null,
"transcript": "ENST00000703308.1",
"protein_id": "ENSP00000515254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.-94+3584T>A",
"hgvs_p": null,
"transcript": "NM_001355019.2",
"protein_id": "NP_001341948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.-94+3816T>A",
"hgvs_p": null,
"transcript": "ENST00000522385.2",
"protein_id": "ENSP00000430869.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.-94+3584T>A",
"hgvs_p": null,
"transcript": "ENST00000703311.1",
"protein_id": "ENSP00000515257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null,
"transcript": "ENST00000703309.1",
"protein_id": "ENSP00000515255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "c.63+2632T>A",
"hgvs_p": null,
"transcript": "ENST00000523082.1",
"protein_id": "ENSP00000428816.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "n.314+4135T>A",
"hgvs_p": null,
"transcript": "ENST00000231504.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.905-15494T>A",
"hgvs_p": null,
"transcript": "ENST00000518409.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.1227-15494T>A",
"hgvs_p": null,
"transcript": "ENST00000520515.5",
"protein_id": null,
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "n.-94+3584T>A",
"hgvs_p": null,
"transcript": "ENST00000703310.1",
"protein_id": "ENSP00000515256.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.430-15494T>A",
"hgvs_p": null,
"transcript": "ENST00000703312.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.*635-15494T>A",
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"transcript": "ENST00000703313.1",
"protein_id": "ENSP00000515258.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.890-15494T>A",
"hgvs_p": null,
"transcript": "ENST00000703316.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273345",
"gene_hgnc_id": null,
"hgvs_c": "n.1217+9416T>A",
"hgvs_p": null,
"transcript": "ENST00000703355.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"hgvs_c": "n.346+3584T>A",
"hgvs_p": null,
"transcript": "NR_149151.2",
"protein_id": null,
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"aa_length": null,
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"feature": null
}
],
"gene_symbol": "PPP2CA",
"gene_hgnc_id": 9299,
"dbsnp": "rs2868600",
"frequency_reference_population": 0.00002630679,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000263068,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.401,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "ENST00000481195.6",
"gene_symbol": "PPP2CA",
"hgnc_id": 9299,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000703317.1",
"gene_symbol": "ENSG00000273345",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*74-15494T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000519718.2",
"gene_symbol": "ENSG00000272772",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.102+4135T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}