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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: 10-84211698-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84211698&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84211698,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000623527.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1536T>A",
"hgvs_p": "p.Tyr512*",
"transcript": "NM_033100.4",
"protein_id": "NP_149091.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 859,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": "ENST00000623527.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1536T>A",
"hgvs_p": "p.Tyr512*",
"transcript": "ENST00000623527.4",
"protein_id": "ENSP00000485478.1",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 859,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": "NM_033100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1536T>A",
"hgvs_p": "p.Tyr512*",
"transcript": "ENST00000332904.7",
"protein_id": "ENSP00000331063.3",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 745,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1536T>A",
"hgvs_p": "p.Tyr512*",
"transcript": "NM_001171971.3",
"protein_id": "NP_001165442.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 745,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.750T>A",
"hgvs_p": "p.Tyr250*",
"transcript": "ENST00000372117.6",
"protein_id": "ENSP00000361189.4",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 597,
"cds_start": 750,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1710T>A",
"hgvs_p": "p.Tyr570*",
"transcript": "XM_011540337.2",
"protein_id": "XP_011538639.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 917,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 7555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1710T>A",
"hgvs_p": "p.Tyr570*",
"transcript": "XM_011540338.2",
"protein_id": "XP_011538640.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 803,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1089T>A",
"hgvs_p": "p.Tyr363*",
"transcript": "XM_011540339.2",
"protein_id": "XP_011538641.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 710,
"cds_start": 1089,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 6290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1710T>A",
"hgvs_p": "p.Tyr570*",
"transcript": "XM_011540340.4",
"protein_id": "XP_011538642.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 656,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.813T>A",
"hgvs_p": "p.Tyr271*",
"transcript": "XM_047425997.1",
"protein_id": "XP_047281953.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 618,
"cds_start": 813,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1543,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "n.267T>A",
"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
}
],
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"dbsnp": "rs786205459",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5699999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.012,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000623527.4",
"gene_symbol": "CDHR1",
"hgnc_id": 14550,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1536T>A",
"hgvs_p": "p.Tyr512*"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}