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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: 2-209877990-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=209877990&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 209877990,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000673920.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3877G>C",
"hgvs_p": "p.Glu1293Gln",
"transcript": "NM_001371986.1",
"protein_id": "NP_001358915.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 3324,
"cds_start": 3877,
"cds_end": null,
"cds_length": 9975,
"cdna_start": 4118,
"cdna_end": null,
"cdna_length": 13917,
"mane_select": "ENST00000673920.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3877G>C",
"hgvs_p": "p.Glu1293Gln",
"transcript": "ENST00000673920.1",
"protein_id": "ENSP00000501211.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 3324,
"cds_start": 3877,
"cds_end": null,
"cds_length": 9975,
"cdna_start": 4118,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "n.1408G>C",
"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": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3883G>C",
"hgvs_p": "p.Glu1295Gln",
"transcript": "NM_032504.2",
"protein_id": "NP_115893.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 3258,
"cds_start": 3883,
"cds_end": null,
"cds_length": 9777,
"cdna_start": 4124,
"cdna_end": null,
"cdna_length": 13719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3883G>C",
"hgvs_p": "p.Glu1295Gln",
"transcript": "ENST00000439458.5",
"protein_id": "ENSP00000391088.1",
"transcript_support_level": 5,
"aa_start": 1295,
"aa_end": null,
"aa_length": 3258,
"cds_start": 3883,
"cds_end": null,
"cds_length": 9777,
"cdna_start": 3963,
"cdna_end": null,
"cdna_length": 13562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3877G>C",
"hgvs_p": "p.Glu1293Gln",
"transcript": "ENST00000673951.2",
"protein_id": "ENSP00000501012.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 3256,
"cds_start": 3877,
"cds_end": null,
"cds_length": 9771,
"cdna_start": 4381,
"cdna_end": null,
"cdna_length": 13976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3868G>C",
"hgvs_p": "p.Glu1290Gln",
"transcript": "NM_182587.4",
"protein_id": "NP_872393.3",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 3234,
"cds_start": 3868,
"cds_end": null,
"cds_length": 9705,
"cdna_start": 4109,
"cdna_end": null,
"cdna_length": 13647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "c.3868G>C",
"hgvs_p": "p.Glu1290Gln",
"transcript": "ENST00000272845.10",
"protein_id": "ENSP00000272845.5",
"transcript_support_level": 5,
"aa_start": 1290,
"aa_end": null,
"aa_length": 3234,
"cds_start": 3868,
"cds_end": null,
"cds_length": 9705,
"cdna_start": 3902,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "n.*214G>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC80",
"gene_hgnc_id": 26582,
"hgvs_c": "n.*214G>C",
"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": "rs187089611",
"frequency_reference_population": 0.0002126567,
"hom_count_reference_population": 2,
"allele_count_reference_population": 328,
"gnomad_exomes_af": 0.00022516,
"gnomad_genomes_af": 0.0000985079,
"gnomad_exomes_ac": 313,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1268773078918457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.3376,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.597,
"phylop100way_prediction": "Pathogenic",
"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": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000673920.1",
"gene_symbol": "UNC80",
"hgnc_id": 26582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3877G>C",
"hgvs_p": "p.Glu1293Gln"
}
],
"clinvar_disease": " infantile, with psychomotor retardation and characteristic facies 2,Hypotonia,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "Inborn genetic diseases|Hypotonia, infantile, with psychomotor retardation and characteristic facies 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}