← Back to variant description
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: 16-57959985-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57959985&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57959985,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000251102.13",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*",
"transcript": "NM_001297.5",
"protein_id": "NP_001288.3",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1251,
"cds_start": 664,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "ENST00000251102.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*",
"transcript": "ENST00000251102.13",
"protein_id": "ENSP00000251102.8",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 1251,
"cds_start": 664,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "NM_001297.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Gln216*",
"transcript": "ENST00000564448.5",
"protein_id": "ENSP00000454633.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 1245,
"cds_start": 646,
"cds_end": null,
"cds_length": 3738,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*",
"transcript": "ENST00000311183.8",
"protein_id": "ENSP00000311670.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 299,
"cds_start": 664,
"cds_end": null,
"cds_length": 900,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Gln216*",
"transcript": "NM_001286130.2",
"protein_id": "NP_001273059.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 1245,
"cds_start": 646,
"cds_end": null,
"cds_length": 3738,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 5639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*",
"transcript": "NM_001135639.2",
"protein_id": "NP_001129111.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 299,
"cds_start": 664,
"cds_end": null,
"cds_length": 900,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"hgvs_c": "c.*21C>T",
"hgvs_p": null,
"transcript": "ENST00000562761.1",
"protein_id": "ENSP00000455708.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNGB1",
"gene_hgnc_id": 2151,
"dbsnp": "rs750620302",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"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": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.136,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000251102.13",
"gene_symbol": "CNGB1",
"hgnc_id": 2151,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*"
}
],
"clinvar_disease": "Retinitis pigmentosa",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Retinitis pigmentosa",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}