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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: 2-209839439-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=209839439&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 209839439,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000673920.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3250+9A>G",
"hgvs_p": null,
"transcript": "NM_001371986.1",
"protein_id": "NP_001358915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3324,
"cds_start": -4,
"cds_end": null,
"cds_length": 9975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13917,
"mane_select": "ENST00000673920.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3250+9A>G",
"hgvs_p": null,
"transcript": "ENST00000673920.1",
"protein_id": "ENSP00000501211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3324,
"cds_start": -4,
"cds_end": null,
"cds_length": 9975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13917,
"mane_select": "NM_001371986.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "n.781+3A>G",
"hgvs_p": null,
"transcript": "ENST00000489023.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 8010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3256+3A>G",
"hgvs_p": null,
"transcript": "NM_032504.2",
"protein_id": "NP_115893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3258,
"cds_start": -4,
"cds_end": null,
"cds_length": 9777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3256+3A>G",
"hgvs_p": null,
"transcript": "ENST00000439458.5",
"protein_id": "ENSP00000391088.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3258,
"cds_start": -4,
"cds_end": null,
"cds_length": 9777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3250+9A>G",
"hgvs_p": null,
"transcript": "ENST00000673951.2",
"protein_id": "ENSP00000501012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3256,
"cds_start": -4,
"cds_end": null,
"cds_length": 9771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3241+3A>G",
"hgvs_p": null,
"transcript": "NM_182587.4",
"protein_id": "NP_872393.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3234,
"cds_start": -4,
"cds_end": null,
"cds_length": 9705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3241+3A>G",
"hgvs_p": null,
"transcript": "ENST00000272845.10",
"protein_id": "ENSP00000272845.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3234,
"cds_start": -4,
"cds_end": null,
"cds_length": 9705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "n.3250+9A>G",
"hgvs_p": null,
"transcript": "ENST00000715554.1",
"protein_id": "ENSP00000520474.1",
"transcript_support_level": null,
"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": 14109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"dbsnp": "rs144170692",
"frequency_reference_population": 0.00036600107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 568,
"gnomad_exomes_af": 0.000200767,
"gnomad_genomes_af": 0.00188471,
"gnomad_exomes_ac": 281,
"gnomad_genomes_ac": 287,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.20000000298023224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9639999866485596,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.001,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.55,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.99938379853455,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP6,BS1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000673920.1",
"gene_symbol": "UNC80",
"hgnc_id": 26582,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3250+9A>G",
"hgvs_p": null
}
],
"clinvar_disease": " infantile, with psychomotor retardation and characteristic facies 2,Hypotonia,UNC80-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not provided|UNC80-related disorder|Hypotonia, infantile, with psychomotor retardation and characteristic facies 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}