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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: 6-65405388-G-GAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=65405388&ref=G&alt=GAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 65405388,
"ref": "G",
"alt": "GAAA",
"effect": "intron_variant",
"transcript": "ENST00000503581.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-24_863-22dupTTT",
"hgvs_p": null,
"transcript": "NM_001142800.2",
"protein_id": "NP_001136272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3144,
"cds_start": -4,
"cds_end": null,
"cds_length": 9435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": "ENST00000503581.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-22_863-21insTTT",
"hgvs_p": null,
"transcript": "ENST00000503581.6",
"protein_id": "ENSP00000424243.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3144,
"cds_start": -4,
"cds_end": null,
"cds_length": 9435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": "NM_001142800.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-22_863-21insTTT",
"hgvs_p": null,
"transcript": "ENST00000370621.7",
"protein_id": "ENSP00000359655.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3165,
"cds_start": -4,
"cds_end": null,
"cds_length": 9498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-22_863-21insTTT",
"hgvs_p": null,
"transcript": "ENST00000393380.6",
"protein_id": "ENSP00000377042.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-22_863-21insTTT",
"hgvs_p": null,
"transcript": "ENST00000342421.9",
"protein_id": "ENSP00000341818.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-24_863-22dupTTT",
"hgvs_p": null,
"transcript": "NM_001292009.2",
"protein_id": "NP_001278938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3165,
"cds_start": -4,
"cds_end": null,
"cds_length": 9498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-24_863-22dupTTT",
"hgvs_p": null,
"transcript": "NM_001142801.2",
"protein_id": "NP_001136273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"hgvs_c": "c.863-24_863-22dupTTT",
"hgvs_p": null,
"transcript": "NM_198283.2",
"protein_id": "NP_938024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EYS",
"gene_hgnc_id": 21555,
"dbsnp": "rs34154043",
"frequency_reference_population": 0.2241156,
"hom_count_reference_population": 19769,
"allele_count_reference_population": 328458,
"gnomad_exomes_af": 0.226302,
"gnomad_genomes_af": 0.204667,
"gnomad_exomes_ac": 298144,
"gnomad_genomes_ac": 30314,
"gnomad_exomes_homalt": 16017,
"gnomad_genomes_homalt": 3752,
"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": -0.391,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000503581.6",
"gene_symbol": "EYS",
"hgnc_id": 21555,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.863-22_863-21insTTT",
"hgvs_p": null
}
],
"clinvar_disease": "Retinitis pigmentosa 25,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|Retinitis pigmentosa 25",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}