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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: 14-103845237-G-GATAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103845237&ref=G&alt=GATAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103845237,
"ref": "G",
"alt": "GATAC",
"effect": "intron_variant",
"transcript": "ENST00000202556.14",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.9+2061_9+2062insGTAT",
"hgvs_p": null,
"transcript": "NM_015316.3",
"protein_id": "NP_056131.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1090,
"cds_start": -4,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": "ENST00000202556.14",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.9+2061_9+2062insGTAT",
"hgvs_p": null,
"transcript": "ENST00000202556.14",
"protein_id": "ENSP00000202556.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1090,
"cds_start": -4,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": "NM_015316.3",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.-1+1770_-1+1771insGTAT",
"hgvs_p": null,
"transcript": "ENST00000555734.5",
"protein_id": "ENSP00000452376.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.9+2061_9+2062insGTAT",
"hgvs_p": null,
"transcript": "ENST00000553739.2",
"protein_id": "ENSP00000450734.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.264+2061_264+2062insGTAT",
"hgvs_p": null,
"transcript": "ENST00000554136.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.34+2304_34+2305insGTAT",
"hgvs_p": null,
"transcript": "ENST00000556325.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.6+1537_6+1538insGTAT",
"hgvs_p": null,
"transcript": "ENST00000557082.5",
"protein_id": "ENSP00000451396.1",
"transcript_support_level": 5,
"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": 4254,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.213+3034_213+3035insGTAT",
"hgvs_p": null,
"transcript": "XM_011536593.4",
"protein_id": "XP_011534895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5871,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.213+3034_213+3035insGTAT",
"hgvs_p": null,
"transcript": "XM_005267487.6",
"protein_id": "XP_005267544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5766,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.9+2061_9+2062insGTAT",
"hgvs_p": null,
"transcript": "XM_017021116.2",
"protein_id": "XP_016876605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1125,
"cds_start": -4,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5605,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.-1+1770_-1+1771insGTAT",
"hgvs_p": null,
"transcript": "XM_017021117.2",
"protein_id": "XP_016876606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": -4,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5456,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.-1+1770_-1+1771insGTAT",
"hgvs_p": null,
"transcript": "XM_047431171.1",
"protein_id": "XP_047287127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5351,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "c.213+3034_213+3035insGTAT",
"hgvs_p": null,
"transcript": "XM_047431172.1",
"protein_id": "XP_047287128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1082,
"cds_start": -4,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.543+3034_543+3035insGTAT",
"hgvs_p": null,
"transcript": "XR_001750204.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4870,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.543+3034_543+3035insGTAT",
"hgvs_p": null,
"transcript": "XR_001750205.3",
"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": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.543+3034_543+3035insGTAT",
"hgvs_p": null,
"transcript": "XR_001750206.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"hgvs_c": "n.543+3034_543+3035insGTAT",
"hgvs_p": null,
"transcript": "XR_007063997.1",
"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": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP1R13B",
"gene_hgnc_id": 14950,
"dbsnp": "rs2307733",
"frequency_reference_population": 0.66613,
"hom_count_reference_population": 34697,
"allele_count_reference_population": 100952,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.66613,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 100952,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 34697,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.235,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000202556.14",
"gene_symbol": "PPP1R13B",
"hgnc_id": 14950,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.9+2061_9+2062insGTAT",
"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
}