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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: 2-98395852-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=98395852&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 98395852,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000272602.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.682G>T",
"hgvs_p": "p.Glu228*",
"transcript": "NM_001298.3",
"protein_id": "NP_001289.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 694,
"cds_start": 682,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": "ENST00000272602.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.682G>T",
"hgvs_p": "p.Glu228*",
"transcript": "ENST00000272602.7",
"protein_id": "ENSP00000272602.2",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 694,
"cds_start": 682,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": "NM_001298.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"transcript": "ENST00000436404.6",
"protein_id": "ENSP00000410070.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 676,
"cds_start": 628,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"transcript": "NM_001079878.2",
"protein_id": "NP_001073347.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 676,
"cds_start": 628,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.847G>T",
"hgvs_p": "p.Glu283*",
"transcript": "XM_011510554.3",
"protein_id": "XP_011508856.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 749,
"cds_start": 847,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.847G>T",
"hgvs_p": "p.Glu283*",
"transcript": "XM_047443222.1",
"protein_id": "XP_047299178.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 749,
"cds_start": 847,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Glu265*",
"transcript": "XM_006712243.3",
"protein_id": "XP_006712306.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 731,
"cds_start": 793,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 3658,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"hgvs_c": "n.835G>T",
"hgvs_p": null,
"transcript": "ENST00000409937.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNGA3",
"gene_hgnc_id": 2150,
"dbsnp": "rs147415641",
"frequency_reference_population": 6.8408065e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84081e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "ENST00000272602.7",
"gene_symbol": "CNGA3",
"hgnc_id": 2150,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.682G>T",
"hgvs_p": "p.Glu228*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}