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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: 10-87960876-CTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87960876&ref=CTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87960876,
"ref": "CTTT",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000371953.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.802-5_802-3delTTT",
"hgvs_p": null,
"transcript": "NM_000314.8",
"protein_id": "NP_000305.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8515,
"mane_select": "ENST00000371953.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.802-17_802-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000371953.8",
"protein_id": "ENSP00000361021.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8515,
"mane_select": "NM_000314.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.1321-5_1321-3delTTT",
"hgvs_p": null,
"transcript": "NM_001304717.5",
"protein_id": "NP_001291646.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.1321-17_1321-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000693560.1",
"protein_id": "ENSP00000509861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.895-17_895-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700029.2",
"protein_id": "ENSP00000514759.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.895-17_895-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000713839.1",
"protein_id": "ENSP00000519144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.802-17_802-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000688308.1",
"protein_id": "ENSP00000508752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.757-17_757-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700021.1",
"protein_id": "ENSP00000514757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.802-17_802-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000472832.3",
"protein_id": "ENSP00000483066.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "c.211-5_211-3delTTT",
"hgvs_p": null,
"transcript": "NM_001304718.2",
"protein_id": "NP_001291647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": -4,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.*388-17_*388-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000686459.1",
"protein_id": "ENSP00000508909.1",
"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,
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"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.1537-17_1537-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000688158.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 8405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.*632-17_*632-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000688922.2",
"protein_id": "ENSP00000508742.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2818,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.*141-17_*141-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700022.1",
"protein_id": "ENSP00000514758.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.1960-17_1960-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700023.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.2194-17_2194-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700024.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.1571-17_1571-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700025.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.439-17_439-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000700026.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.*837-17_*837-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000706955.1",
"protein_id": "ENSP00000516675.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTEN",
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"hgvs_c": "n.802-17_802-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000710265.1",
"protein_id": "ENSP00000518161.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"hgvs_c": "n.*715-17_*715-15delTTT",
"hgvs_p": null,
"transcript": "ENST00000713837.1",
"protein_id": "ENSP00000519142.1",
"transcript_support_level": null,
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"cdna_length": 8680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTEN",
"gene_hgnc_id": 9588,
"dbsnp": "rs34003473",
"frequency_reference_population": 0.000175226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 249,
"gnomad_exomes_af": 0.000188286,
"gnomad_genomes_af": 0.0000399616,
"gnomad_exomes_ac": 244,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.37,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000371953.8",
"gene_symbol": "PTEN",
"hgnc_id": 9588,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.802-17_802-15delTTT",
"hgvs_p": null
}
],
"clinvar_disease": "Breast and/or ovarian cancer,Hereditary cancer-predisposing syndrome,PTEN hamartoma tumor syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Breast and/or ovarian cancer",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}