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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: 16-80604501-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=80604501&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 80604501,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152342.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Val470Met",
"transcript": "NM_152342.4",
"protein_id": "NP_689555.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 506,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000570137.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152342.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Val470Met",
"transcript": "ENST00000570137.7",
"protein_id": "ENSP00000476295.1",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 506,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152342.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570137.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Val471Met",
"transcript": "ENST00000562812.5",
"protein_id": "ENSP00000454546.1",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 507,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562812.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Val471Met",
"transcript": "ENST00000563890.5",
"protein_id": "ENSP00000455111.1",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 507,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563890.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Val471Met",
"transcript": "ENST00000566173.3",
"protein_id": "ENSP00000456934.1",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 507,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566173.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Val422Met",
"transcript": "ENST00000919359.1",
"protein_id": "ENSP00000589418.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919359.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Met",
"transcript": "XM_011522866.2",
"protein_id": "XP_011521168.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 540,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522866.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Val467Met",
"transcript": "XM_011522867.3",
"protein_id": "XP_011521169.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 503,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522867.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Val411Met",
"transcript": "XM_024450151.2",
"protein_id": "XP_024305919.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 447,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450151.2"
}
],
"gene_symbol": "CDYL2",
"gene_hgnc_id": 23030,
"dbsnp": "rs570302046",
"frequency_reference_population": 0.0000024779954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": 0.00000656521,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2935876250267029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": 0.11,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152342.4",
"gene_symbol": "CDYL2",
"hgnc_id": 23030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Val470Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}