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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: 12-103756221-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=103756221&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 103756221,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000388887.7",
"consequences": [
{
"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": 69,
"intron_rank": 63,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "c.6987+503C>T",
"hgvs_p": null,
"transcript": "NM_017564.10",
"protein_id": "NP_060034.9",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2551,
"cds_start": -4,
"cds_end": null,
"cds_length": 7656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": "ENST00000388887.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 63,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "c.6987+503C>T",
"hgvs_p": null,
"transcript": "ENST00000388887.7",
"protein_id": "ENSP00000373539.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2551,
"cds_start": -4,
"cds_end": null,
"cds_length": 7656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": "NM_017564.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "n.483+503C>T",
"hgvs_p": null,
"transcript": "ENST00000548073.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257681",
"gene_hgnc_id": 58447,
"hgvs_c": "n.173-9582G>A",
"hgvs_p": null,
"transcript": "ENST00000551299.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 497,
"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": 55,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "c.5316+503C>T",
"hgvs_p": null,
"transcript": "XM_011538539.3",
"protein_id": "XP_011536841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1994,
"cds_start": -4,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6936,
"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": 47,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "c.4386+503C>T",
"hgvs_p": null,
"transcript": "XM_011538541.2",
"protein_id": "XP_011536843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1684,
"cds_start": -4,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5576,
"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": 34,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "c.3048+503C>T",
"hgvs_p": null,
"transcript": "XM_011538542.3",
"protein_id": "XP_011536844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1238,
"cds_start": -4,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC3",
"gene_hgnc_id": 30826,
"hgvs_c": "n.4175-9582G>A",
"hgvs_p": null,
"transcript": "XR_001748758.2",
"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": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NT5DC3",
"gene_hgnc_id": 30826,
"hgvs_c": "n.6180+7202G>A",
"hgvs_p": null,
"transcript": "XR_007063089.1",
"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": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NT5DC3",
"gene_hgnc_id": 30826,
"hgvs_c": "n.5785-9582G>A",
"hgvs_p": null,
"transcript": "XR_007063090.1",
"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": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "NT5DC3",
"gene_hgnc_id": 30826,
"hgvs_c": "n.5259+7202G>A",
"hgvs_p": null,
"transcript": "XR_007063091.1",
"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": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "NT5DC3",
"gene_hgnc_id": 30826,
"hgvs_c": "n.5143+7202G>A",
"hgvs_p": null,
"transcript": "XR_007063092.1",
"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": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "NT5DC3",
"gene_hgnc_id": 30826,
"hgvs_c": "n.4767+7202G>A",
"hgvs_p": null,
"transcript": "XR_007063093.1",
"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": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"hgvs_c": "n.7084+754C>T",
"hgvs_p": null,
"transcript": "XR_007063104.1",
"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": 7292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAB2",
"gene_hgnc_id": 18629,
"dbsnp": "rs4981021",
"frequency_reference_population": 0.2447403,
"hom_count_reference_population": 5103,
"allele_count_reference_population": 37225,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.24474,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 37225,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5103,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.986,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000388887.7",
"gene_symbol": "STAB2",
"hgnc_id": 18629,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6987+503C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000551299.1",
"gene_symbol": "ENSG00000257681",
"hgnc_id": 58447,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.173-9582G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001748758.2",
"gene_symbol": "NT5DC3",
"hgnc_id": 30826,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.4175-9582G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}