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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: 6-65402507-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=65402507&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 65402507,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000503581.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "NM_001142800.2",
"protein_id": "NP_001136272.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 3144,
"cds_start": 1155,
"cds_end": null,
"cds_length": 9435,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": "ENST00000503581.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "ENST00000503581.6",
"protein_id": "ENSP00000424243.1",
"transcript_support_level": 5,
"aa_start": 385,
"aa_end": null,
"aa_length": 3144,
"cds_start": 1155,
"cds_end": null,
"cds_length": 9435,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": "NM_001142800.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "ENST00000370621.7",
"protein_id": "ENSP00000359655.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 3165,
"cds_start": 1155,
"cds_end": null,
"cds_length": 9498,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "ENST00000393380.6",
"protein_id": "ENSP00000377042.2",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 619,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "ENST00000342421.9",
"protein_id": "ENSP00000341818.5",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 594,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "NM_001292009.2",
"protein_id": "NP_001278938.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 3165,
"cds_start": 1155,
"cds_end": null,
"cds_length": 9498,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 10653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "NM_001142801.2",
"protein_id": "NP_001136273.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 619,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 5451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*",
"transcript": "NM_198283.2",
"protein_id": "NP_938024.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 594,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"dbsnp": "rs143994166",
"frequency_reference_population": 0.0002982279,
"hom_count_reference_population": 1,
"allele_count_reference_population": 456,
"gnomad_exomes_af": 0.000264373,
"gnomad_genomes_af": 0.000604515,
"gnomad_exomes_ac": 364,
"gnomad_genomes_ac": 92,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009999999776482582,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.204,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000503581.6",
"gene_symbol": "EYS",
"hgnc_id": 21555,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1155T>A",
"hgvs_p": "p.Cys385*"
}
],
"clinvar_disease": "Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 25,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "Retinal dystrophy|not provided|Retinitis pigmentosa 25|Retinitis pigmentosa",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}