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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: 11-64598579-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64598579&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64598579,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000377574.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Glu298Glu",
"transcript": "NM_144585.4",
"protein_id": "NP_653186.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 553,
"cds_start": 894,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": "ENST00000377574.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Glu298Glu",
"transcript": "ENST00000377574.6",
"protein_id": "ENSP00000366797.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 553,
"cds_start": 894,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": "NM_144585.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Glu264Glu",
"transcript": "ENST00000336464.7",
"protein_id": "ENSP00000336836.7",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 519,
"cds_start": 792,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Glu190Glu",
"transcript": "ENST00000377572.5",
"protein_id": "ENSP00000366795.1",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 445,
"cds_start": 570,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Glu264Glu",
"transcript": "NM_001276326.2",
"protein_id": "NP_001263255.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 519,
"cds_start": 792,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Glu190Glu",
"transcript": "NM_001276327.2",
"protein_id": "NP_001263256.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 445,
"cds_start": 570,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Glu190Glu",
"transcript": "ENST00000377567.6",
"protein_id": "ENSP00000366790.2",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 445,
"cds_start": 570,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.231G>A",
"hgvs_p": "p.Glu77Glu",
"transcript": "NM_153378.3",
"protein_id": "NP_700357.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 332,
"cds_start": 231,
"cds_end": null,
"cds_length": 999,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.231G>A",
"hgvs_p": "p.Glu77Glu",
"transcript": "ENST00000473690.5",
"protein_id": "ENSP00000438437.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 332,
"cds_start": 231,
"cds_end": null,
"cds_length": 999,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.969G>A",
"hgvs_p": "p.Glu323Glu",
"transcript": "XM_006718430.5",
"protein_id": "XP_006718493.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 578,
"cds_start": 969,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "XM_006718431.5",
"protein_id": "XP_006718494.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 543,
"cds_start": 864,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC22A12",
"gene_hgnc_id": 17989,
"dbsnp": "rs121907894",
"frequency_reference_population": 0.000019900968,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000212942,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"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": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.053,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377574.6",
"gene_symbol": "SLC22A12",
"hgnc_id": 17989,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Glu298Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}