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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: 2-20204188-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=20204188&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 20204188,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000254351.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu",
"transcript": "NM_002997.5",
"protein_id": "NP_002988.4",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 310,
"cds_start": 252,
"cds_end": null,
"cds_length": 933,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "ENST00000254351.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu",
"transcript": "ENST00000254351.9",
"protein_id": "ENSP00000254351.4",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 310,
"cds_start": 252,
"cds_end": null,
"cds_length": 933,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "NM_002997.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu",
"transcript": "ENST00000403076.5",
"protein_id": "ENSP00000384613.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 169,
"cds_start": 252,
"cds_end": null,
"cds_length": 510,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu",
"transcript": "NM_001006946.2",
"protein_id": "NP_001006947.2",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 310,
"cds_start": 252,
"cds_end": null,
"cds_length": 933,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu",
"transcript": "ENST00000381150.5",
"protein_id": "ENSP00000370542.1",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 310,
"cds_start": 252,
"cds_end": null,
"cds_length": 933,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.276G>A",
"hgvs_p": "p.Glu92Glu",
"transcript": "ENST00000429035.1",
"protein_id": "ENSP00000400773.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 214,
"cds_start": 276,
"cds_end": null,
"cds_length": 646,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "XM_005262620.5",
"protein_id": "XP_005262677.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 334,
"cds_start": 324,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.237G>A",
"hgvs_p": "p.Glu79Glu",
"transcript": "XM_005262621.3",
"protein_id": "XP_005262678.3",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 305,
"cds_start": 237,
"cds_end": null,
"cds_length": 918,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.198G>A",
"hgvs_p": "p.Glu66Glu",
"transcript": "XM_005262622.3",
"protein_id": "XP_005262679.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 292,
"cds_start": 198,
"cds_end": null,
"cds_length": 879,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 3038,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "n.*241G>A",
"hgvs_p": null,
"transcript": "ENST00000447124.1",
"protein_id": "ENSP00000390201.1",
"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": 591,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "n.372G>A",
"hgvs_p": null,
"transcript": "ENST00000482879.5",
"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": 558,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "n.*241G>A",
"hgvs_p": null,
"transcript": "ENST00000447124.1",
"protein_id": "ENSP00000390201.1",
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"dbsnp": "rs2230924",
"frequency_reference_population": 0.24676087,
"hom_count_reference_population": 50140,
"allele_count_reference_population": 394695,
"gnomad_exomes_af": 0.249088,
"gnomad_genomes_af": 0.22459,
"gnomad_exomes_ac": 360569,
"gnomad_genomes_ac": 34126,
"gnomad_exomes_homalt": 46095,
"gnomad_genomes_homalt": 4045,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.653,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000254351.9",
"gene_symbol": "SDC1",
"hgnc_id": 10658,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}