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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: 10-84211138-AGG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84211138&ref=AGG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84211138,
"ref": "AGG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000623527.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1462_1463delGG",
"hgvs_p": "p.Gly488fs",
"transcript": "NM_033100.4",
"protein_id": "NP_149091.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 859,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": "ENST00000623527.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1462_1463delGG",
"hgvs_p": "p.Gly488fs",
"transcript": "ENST00000623527.4",
"protein_id": "ENSP00000485478.1",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 859,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": "NM_033100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1462_1463delGG",
"hgvs_p": "p.Gly488fs",
"transcript": "ENST00000332904.7",
"protein_id": "ENSP00000331063.3",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 745,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1462_1463delGG",
"hgvs_p": "p.Gly488fs",
"transcript": "NM_001171971.3",
"protein_id": "NP_001165442.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 745,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1636_1637delGG",
"hgvs_p": "p.Gly546fs",
"transcript": "XM_011540337.2",
"protein_id": "XP_011538639.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 917,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 7555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1636_1637delGG",
"hgvs_p": "p.Gly546fs",
"transcript": "XM_011540338.2",
"protein_id": "XP_011538640.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 803,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1015_1016delGG",
"hgvs_p": "p.Gly339fs",
"transcript": "XM_011540339.2",
"protein_id": "XP_011538641.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 710,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 6290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1636_1637delGG",
"hgvs_p": "p.Gly546fs",
"transcript": "XM_011540340.4",
"protein_id": "XP_011538642.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 656,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.739_740delGG",
"hgvs_p": "p.Gly247fs",
"transcript": "XM_047425997.1",
"protein_id": "XP_047281953.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 618,
"cds_start": 739,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 6660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "n.193_194delGG",
"hgvs_p": null,
"transcript": "ENST00000622973.1",
"protein_id": "ENSP00000485151.1",
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.700-506_700-505delGG",
"hgvs_p": null,
"transcript": "ENST00000372117.6",
"protein_id": "ENSP00000361189.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"dbsnp": "rs756678484",
"frequency_reference_population": 0.0000013681032,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"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": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.509,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000623527.4",
"gene_symbol": "CDHR1",
"hgnc_id": 14550,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1462_1463delGG",
"hgvs_p": "p.Gly488fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}