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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: 8-86576012-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86576012&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 86576012,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_019098.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "c.2221delG",
"hgvs_p": "p.Asp741fs",
"transcript": "NM_019098.5",
"protein_id": "NP_061971.3",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 809,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": "ENST00000320005.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019098.5"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "c.2221delG",
"hgvs_p": "p.Asp741fs",
"transcript": "ENST00000320005.6",
"protein_id": "ENSP00000316605.5",
"transcript_support_level": 1,
"aa_start": 741,
"aa_end": null,
"aa_length": 809,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": "NM_019098.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320005.6"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "c.1807delG",
"hgvs_p": "p.Asp603fs",
"transcript": "XM_011517138.3",
"protein_id": "XP_011515440.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 671,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517138.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "c.276+2676delG",
"hgvs_p": null,
"transcript": "ENST00000517327.5",
"protein_id": "ENSP00000428329.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517327.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "n.2041delG",
"hgvs_p": null,
"transcript": "ENST00000681546.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000681546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "n.*632delG",
"hgvs_p": null,
"transcript": "ENST00000681746.1",
"protein_id": "ENSP00000505959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"hgvs_c": "n.*632delG",
"hgvs_p": null,
"transcript": "ENST00000681746.1",
"protein_id": "ENSP00000505959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681746.1"
}
],
"gene_symbol": "CNGB3",
"gene_hgnc_id": 2153,
"dbsnp": "rs1554604552",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.031,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019098.5",
"gene_symbol": "CNGB3",
"hgnc_id": 2153,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2221delG",
"hgvs_p": "p.Asp741fs"
}
],
"clinvar_disease": "Achromatopsia 3,Retinal dystrophy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Achromatopsia 3|Retinal dystrophy|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}