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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: 17-40818867-TCCGCCGCCGGAGCTGCTG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40818867&ref=TCCGCCGCCGGAGCTGCTG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40818867,
"ref": "TCCGCCGCCGGAGCTGCTG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001379366.1",
"consequences": [
{
"aa_ref": "GSSSGGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1650_1667delCAGCAGCTCCGGCGGCGG",
"hgvs_p": "p.Ser551_Gly556del",
"transcript": "NM_000421.5",
"protein_id": "NP_000412.4",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 584,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269576.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000421.5"
},
{
"aa_ref": "GSSSGGG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1650_1667delCAGCAGCTCCGGCGGCGG",
"hgvs_p": "p.Ser551_Gly556del",
"transcript": "ENST00000269576.6",
"protein_id": "ENSP00000269576.5",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 584,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000421.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269576.6"
},
{
"aa_ref": "GSSSGGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1650_1667delCAGCAGCTCCGGCGGCGG",
"hgvs_p": "p.Ser551_Gly556del",
"transcript": "NM_001379366.1",
"protein_id": "NP_001366295.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 624,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379366.1"
},
{
"aa_ref": "GSSSGGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1650_1667delCAGCAGCTCCGGCGGCGG",
"hgvs_p": "p.Ser551_Gly556del",
"transcript": "ENST00000635956.2",
"protein_id": "ENSP00000490524.2",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 624,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635956.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-230_-213delCCGCCGCCGGAGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000301665.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000301665.10"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-203_-186delCCGCCGCCGGAGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000436612.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000436612.7"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-230_-213delCCGCCGCCGGAGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000668620.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668620.2"
},
{
"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": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-234_-217delCCGCCGCCGGAGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000692645.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692645.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-248_-231delCCGCCGCCGGAGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000719698.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000719698.1"
}
],
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"dbsnp": "rs766129021",
"frequency_reference_population": 0.00012437098,
"hom_count_reference_population": 0,
"allele_count_reference_population": 191,
"gnomad_exomes_af": 0.000125125,
"gnomad_genomes_af": 0.000117149,
"gnomad_exomes_ac": 174,
"gnomad_genomes_ac": 17,
"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": 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": 2.328,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001379366.1",
"gene_symbol": "KRT10",
"hgnc_id": 6413,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1650_1667delCAGCAGCTCCGGCGGCGG",
"hgvs_p": "p.Ser551_Gly556del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000301665.10",
"gene_symbol": "KRT10-AS1",
"hgnc_id": 28305,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-230_-213delCCGCCGCCGGAGCTGCTG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}