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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: 11-2884884-CGGGGCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2884884&ref=CGGGGCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2884884,
"ref": "CGGGGCT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000440480.8",
"consequences": [
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.567_572delAGCCCC",
"hgvs_p": "p.Ala190_Pro191del",
"transcript": "NM_001122630.2",
"protein_id": "NP_001116102.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 305,
"cds_start": 567,
"cds_end": null,
"cds_length": 918,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "ENST00000440480.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.567_572delAGCCCC",
"hgvs_p": "p.Ala190_Pro191del",
"transcript": "ENST00000440480.8",
"protein_id": "ENSP00000411257.2",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 305,
"cds_start": 567,
"cds_end": null,
"cds_length": 918,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "NM_001122630.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.600_605delAGCCCC",
"hgvs_p": "p.Ala201_Pro202del",
"transcript": "ENST00000414822.8",
"protein_id": "ENSP00000413720.3",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 316,
"cds_start": 600,
"cds_end": null,
"cds_length": 951,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.600_605delAGCCCC",
"hgvs_p": "p.Ala201_Pro202del",
"transcript": "ENST00000430149.3",
"protein_id": "ENSP00000411552.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 316,
"cds_start": 600,
"cds_end": null,
"cds_length": 951,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.600_605delAGCCCC",
"hgvs_p": "p.Ala201_Pro202del",
"transcript": "NM_000076.2",
"protein_id": "NP_000067.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 316,
"cds_start": 600,
"cds_end": null,
"cds_length": 951,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.600_605delAGCCCC",
"hgvs_p": "p.Ala201_Pro202del",
"transcript": "NM_001362474.2",
"protein_id": "NP_001349403.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 316,
"cds_start": 600,
"cds_end": null,
"cds_length": 951,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.567_572delAGCCCC",
"hgvs_p": "p.Ala190_Pro191del",
"transcript": "NM_001122631.2",
"protein_id": "NP_001116103.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 305,
"cds_start": 567,
"cds_end": null,
"cds_length": 918,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1768,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.255+312_255+317delAGCCCC",
"hgvs_p": null,
"transcript": "NM_001362475.2",
"protein_id": "NP_001349404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1236,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.255+312_255+317delAGCCCC",
"hgvs_p": null,
"transcript": "ENST00000647251.1",
"protein_id": "ENSP00000496631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 775,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "c.255+312_255+317delAGCCCC",
"hgvs_p": null,
"transcript": "ENST00000380725.2",
"protein_id": "ENSP00000370101.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1193,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "n.142+744_142+749delAGCCCC",
"hgvs_p": null,
"transcript": "ENST00000681969.1",
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"hgvs_c": "n.-189_-184delAGCCCC",
"hgvs_p": null,
"transcript": "ENST00000471157.2",
"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": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDKN1C",
"gene_hgnc_id": 1786,
"dbsnp": "rs1060503860",
"frequency_reference_population": 0.00014116286,
"hom_count_reference_population": 1,
"allele_count_reference_population": 124,
"gnomad_exomes_af": 0.0000907817,
"gnomad_genomes_af": 0.000406029,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 57,
"gnomad_exomes_homalt": 1,
"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": 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": 1.31,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000440480.8",
"gene_symbol": "CDKN1C",
"hgnc_id": 1786,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.567_572delAGCCCC",
"hgvs_p": "p.Ala190_Pro191del"
}
],
"clinvar_disease": "Beckwith-Wiedemann syndrome,CDKN1C-related disorder,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Beckwith-Wiedemann syndrome|not specified|CDKN1C-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}