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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: 1-2304066-TCGGAGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2304066&ref=TCGGAGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2304066,
"ref": "TCGGAGG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_003036.4",
"consequences": [
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.1445_1450delCGGAGG",
"hgvs_p": "p.Ala482_Glu483del",
"transcript": "NM_003036.4",
"protein_id": "NP_003027.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 728,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378536.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003036.4"
},
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.1445_1450delCGGAGG",
"hgvs_p": "p.Ala482_Glu483del",
"transcript": "ENST00000378536.5",
"protein_id": "ENSP00000367797.4",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 728,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003036.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378536.5"
},
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.1445_1450delCGGAGG",
"hgvs_p": "p.Ala482_Glu483del",
"transcript": "ENST00000851187.1",
"protein_id": "ENSP00000521247.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 730,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851187.1"
},
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.1445_1450delCGGAGG",
"hgvs_p": "p.Ala482_Glu483del",
"transcript": "XM_005244775.4",
"protein_id": "XP_005244832.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 730,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244775.4"
},
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.953_958delCGGAGG",
"hgvs_p": "p.Ala318_Glu319del",
"transcript": "XM_017002128.2",
"protein_id": "XP_016857617.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 566,
"cds_start": 953,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002128.2"
},
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.575_580delCGGAGG",
"hgvs_p": "p.Ala192_Glu193del",
"transcript": "XM_005244776.5",
"protein_id": "XP_005244833.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 440,
"cds_start": 575,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244776.5"
},
{
"aa_ref": "AEV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "c.575_580delCGGAGG",
"hgvs_p": "p.Ala192_Glu193del",
"transcript": "XM_047428466.1",
"protein_id": "XP_047284422.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 438,
"cds_start": 575,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "n.428_433delCGGAGG",
"hgvs_p": null,
"transcript": "ENST00000507179.1",
"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": "retained_intron",
"feature": "ENST00000507179.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"hgvs_c": "n.*159_*164delCGGAGG",
"hgvs_p": null,
"transcript": "ENST00000704337.1",
"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": "ENST00000704337.1"
}
],
"gene_symbol": "SKI",
"gene_hgnc_id": 10896,
"dbsnp": "rs762410895",
"frequency_reference_population": 0.000054783264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 80,
"gnomad_exomes_af": 0.0000547833,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"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": 9.021,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003036.4",
"gene_symbol": "SKI",
"hgnc_id": 10896,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1445_1450delCGGAGG",
"hgvs_p": "p.Ala482_Glu483del"
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Shprintzen-Goldberg syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Shprintzen-Goldberg syndrome|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}