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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: 2-219421474-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219421474&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219421474,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000373960.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Arg386Arg",
"transcript": "NM_001927.4",
"protein_id": "NP_001918.3",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 470,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": "ENST00000373960.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Arg386Arg",
"transcript": "ENST00000373960.4",
"protein_id": "ENSP00000363071.3",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 470,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": "NM_001927.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.1155C>A",
"hgvs_p": "p.Arg385Arg",
"transcript": "NM_001382708.1",
"protein_id": "NP_001369637.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 469,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Arg386Arg",
"transcript": "NM_001382712.1",
"protein_id": "NP_001369641.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 465,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.1137C>A",
"hgvs_p": "p.Arg379Arg",
"transcript": "NM_001382711.1",
"protein_id": "NP_001369640.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 463,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.1089C>A",
"hgvs_p": "p.Arg363Arg",
"transcript": "NM_001382710.1",
"protein_id": "NP_001369639.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 447,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.888C>A",
"hgvs_p": "p.Arg296Arg",
"transcript": "NM_001382713.1",
"protein_id": "NP_001369642.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 380,
"cds_start": 888,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1973,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "n.632C>A",
"hgvs_p": null,
"transcript": "ENST00000477226.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 1631,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "n.553C>A",
"hgvs_p": null,
"transcript": "ENST00000492726.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 706,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "n.546C>A",
"hgvs_p": null,
"transcript": "ENST00000683013.1",
"protein_id": null,
"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": 1546,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.736-10C>A",
"hgvs_p": null,
"transcript": "NM_001382709.1",
"protein_id": "NP_001369638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"dbsnp": "rs774323736",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.314,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000373960.4",
"gene_symbol": "DES",
"hgnc_id": 2770,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1158C>A",
"hgvs_p": "p.Arg386Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}