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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: 14-91289281-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91289281&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91289281,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000389857.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Ser1422Leu",
"transcript": "NM_001080414.4",
"protein_id": "NP_001073883.2",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 2028,
"cds_start": 4265,
"cds_end": null,
"cds_length": 6087,
"cdna_start": 4395,
"cdna_end": null,
"cdna_length": 7519,
"mane_select": "ENST00000389857.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Ser1422Leu",
"transcript": "ENST00000389857.11",
"protein_id": "ENSP00000374507.6",
"transcript_support_level": 5,
"aa_start": 1422,
"aa_end": null,
"aa_length": 2028,
"cds_start": 4265,
"cds_end": null,
"cds_length": 6087,
"cdna_start": 4395,
"cdna_end": null,
"cdna_length": 7519,
"mane_select": "NM_001080414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ser17Leu",
"transcript": "ENST00000556726.5",
"protein_id": "ENSP00000452406.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 130,
"cds_start": 50,
"cds_end": null,
"cds_length": 393,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "c.4157C>T",
"hgvs_p": "p.Ser1386Leu",
"transcript": "XM_011536796.3",
"protein_id": "XP_011535098.1",
"transcript_support_level": null,
"aa_start": 1386,
"aa_end": null,
"aa_length": 1992,
"cds_start": 4157,
"cds_end": null,
"cds_length": 5979,
"cdna_start": 4429,
"cdna_end": null,
"cdna_length": 7553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "c.3998C>T",
"hgvs_p": "p.Ser1333Leu",
"transcript": "XM_047431418.1",
"protein_id": "XP_047287374.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3998,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 7157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "n.140C>T",
"hgvs_p": null,
"transcript": "ENST00000555995.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "n.4395C>T",
"hgvs_p": null,
"transcript": "NR_189158.1",
"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": 7666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"hgvs_c": "n.4395C>T",
"hgvs_p": null,
"transcript": "NR_189159.1",
"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": 7961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC88C",
"gene_hgnc_id": 19967,
"dbsnp": "rs202217944",
"frequency_reference_population": 0.004660396,
"hom_count_reference_population": 29,
"allele_count_reference_population": 7522,
"gnomad_exomes_af": 0.00481768,
"gnomad_genomes_af": 0.00315114,
"gnomad_exomes_ac": 7042,
"gnomad_genomes_ac": 480,
"gnomad_exomes_homalt": 28,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009359389543533325,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1207,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.089,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000389857.11",
"gene_symbol": "CCDC88C",
"hgnc_id": 19967,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Ser1422Leu"
}
],
"clinvar_disease": "CCDC88C-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|not provided|CCDC88C-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}