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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: 11-617967-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=617967&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 617967,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000397542.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Cys702Tyr",
"transcript": "NM_021924.5",
"protein_id": "NP_068743.3",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 845,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "ENST00000397542.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Cys702Tyr",
"transcript": "ENST00000397542.7",
"protein_id": "ENSP00000380676.2",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 845,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "NM_021924.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Cys508Tyr",
"transcript": "ENST00000349570.11",
"protein_id": "ENSP00000345726.7",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 651,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Cys702Tyr",
"transcript": "ENST00000674088.1",
"protein_id": "ENSP00000501074.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 845,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Cys696Tyr",
"transcript": "NM_001171968.3",
"protein_id": "NP_001165439.2",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 839,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Cys696Tyr",
"transcript": "ENST00000358353.8",
"protein_id": "ENSP00000351118.4",
"transcript_support_level": 5,
"aa_start": 696,
"aa_end": null,
"aa_length": 839,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Cys508Tyr",
"transcript": "NM_031264.5",
"protein_id": "NP_112554.3",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 651,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Cys622Tyr",
"transcript": "XM_006718253.4",
"protein_id": "XP_006718316.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 765,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1772G>A",
"hgvs_p": "p.Cys591Tyr",
"transcript": "XM_011520188.3",
"protein_id": "XP_011518490.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 734,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Cys560Tyr",
"transcript": "XM_011520189.3",
"protein_id": "XP_011518491.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 703,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Met",
"transcript": "XM_011520190.3",
"protein_id": "XP_011518492.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 551,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "n.*1937G>A",
"hgvs_p": null,
"transcript": "ENST00000531177.5",
"protein_id": "ENSP00000437255.1",
"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": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "n.*1937G>A",
"hgvs_p": null,
"transcript": "ENST00000531177.5",
"protein_id": "ENSP00000437255.1",
"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": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"dbsnp": "rs2740379",
"frequency_reference_population": 6.851004e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.851e-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": 0.04821896553039551,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.768,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000397542.7",
"gene_symbol": "CDHR5",
"hgnc_id": 7521,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Cys702Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}