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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: 5-176565711-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176565711&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176565711,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017675.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "NM_017675.6",
"protein_id": "NP_060145.3",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261944.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017675.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000261944.10",
"protein_id": "ENSP00000261944.5",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017675.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261944.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000510636.5",
"protein_id": "ENSP00000424565.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510636.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "n.139C>T",
"hgvs_p": null,
"transcript": "ENST00000506348.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000506348.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888598.1",
"protein_id": "ENSP00000558657.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1346,
"cds_start": 92,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888598.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "NM_001171976.2",
"protein_id": "NP_001165447.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171976.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888592.1",
"protein_id": "ENSP00000558651.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888592.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888593.1",
"protein_id": "ENSP00000558652.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888593.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888594.1",
"protein_id": "ENSP00000558653.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888594.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888595.1",
"protein_id": "ENSP00000558654.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1310,
"cds_start": 92,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888595.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888599.1",
"protein_id": "ENSP00000558658.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1308,
"cds_start": 92,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888599.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888596.1",
"protein_id": "ENSP00000558655.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1304,
"cds_start": 92,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888596.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888597.1",
"protein_id": "ENSP00000558656.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1299,
"cds_start": 92,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888597.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000888601.1",
"protein_id": "ENSP00000558660.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1280,
"cds_start": 92,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888601.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"transcript": "ENST00000955721.1",
"protein_id": "ENSP00000625780.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1230,
"cds_start": 92,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955721.1"
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "c.52+307C>T",
"hgvs_p": null,
"transcript": "ENST00000888600.1",
"protein_id": "ENSP00000558659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1286,
"cds_start": null,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"hgvs_c": "n.92C>T",
"hgvs_p": null,
"transcript": "ENST00000510124.5",
"protein_id": "ENSP00000426838.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510124.5"
}
],
"gene_symbol": "CDHR2",
"gene_hgnc_id": 18231,
"dbsnp": "rs750815475",
"frequency_reference_population": 0.000008209597,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000082096,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4286577105522156,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.2881,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.214,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017675.6",
"gene_symbol": "CDHR2",
"hgnc_id": 18231,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}