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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: 21-36719871-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36719871&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36719871,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000290399.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.His133His",
"transcript": "NM_005069.6",
"protein_id": "NP_005060.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 667,
"cds_start": 399,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": "ENST00000290399.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.His133His",
"transcript": "ENST00000290399.11",
"protein_id": "ENSP00000290399.6",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 667,
"cds_start": 399,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": "NM_005069.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.His70His",
"transcript": "ENST00000431229.1",
"protein_id": "ENSP00000392003.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 479,
"cds_start": 210,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.His133His",
"transcript": "NM_009586.5",
"protein_id": "NP_033664.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 570,
"cds_start": 399,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.His36His",
"transcript": "ENST00000483178.2",
"protein_id": "ENSP00000476273.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 73,
"cds_start": 108,
"cds_end": null,
"cds_length": 222,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.96C>T",
"hgvs_p": "p.His32His",
"transcript": "XM_011529694.2",
"protein_id": "XP_011527996.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 566,
"cds_start": 96,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.96C>T",
"hgvs_p": "p.His32His",
"transcript": "XM_047440952.1",
"protein_id": "XP_047296908.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 566,
"cds_start": 96,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"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": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.His133His",
"transcript": "XM_017028442.3",
"protein_id": "XP_016883931.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 327,
"cds_start": 399,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.His133His",
"transcript": "XM_047440953.1",
"protein_id": "XP_047296909.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 319,
"cds_start": 399,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1651,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"hgvs_c": "n.1012C>T",
"hgvs_p": null,
"transcript": "ENST00000481185.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIM2",
"gene_hgnc_id": 10883,
"dbsnp": "rs16994404",
"frequency_reference_population": 0.007974774,
"hom_count_reference_population": 827,
"allele_count_reference_population": 12865,
"gnomad_exomes_af": 0.00457835,
"gnomad_genomes_af": 0.0406287,
"gnomad_exomes_ac": 6690,
"gnomad_genomes_ac": 6175,
"gnomad_exomes_homalt": 405,
"gnomad_genomes_homalt": 422,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.527,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000290399.11",
"gene_symbol": "SIM2",
"hgnc_id": 10883,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.His133His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}