← Back to variant description
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: 15-83704176-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=83704176&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 83704176,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_207517.3",
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "NM_207517.3",
"protein_id": "NP_997400.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": -4,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": "ENST00000286744.10",
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "ENST00000286744.10",
"protein_id": "ENSP00000286744.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": -4,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": "NM_207517.3",
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "ENST00000567476.1",
"protein_id": "ENSP00000456313.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6873,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "NM_001301110.2",
"protein_id": "NP_001288039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7253,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "n.285-213G>A",
"hgvs_p": null,
"transcript": "ENST00000561483.5",
"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": 4986,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "n.81-213G>A",
"hgvs_p": null,
"transcript": "ENST00000565653.1",
"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": 543,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "n.285-213G>A",
"hgvs_p": null,
"transcript": "ENST00000569510.5",
"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": 2468,
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_011521822.3",
"protein_id": "XP_011520124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1718,
"cds_start": -4,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7380,
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_017022434.2",
"protein_id": "XP_016877923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": -4,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7334,
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_011521823.3",
"protein_id": "XP_011520125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1701,
"cds_start": -4,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7397,
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_011521824.3",
"protein_id": "XP_011520126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1697,
"cds_start": -4,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7317,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_047432885.1",
"protein_id": "XP_047288841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7270,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_047432886.1",
"protein_id": "XP_047288842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1674,
"cds_start": -4,
"cds_end": null,
"cds_length": 5025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7316,
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_047432887.1",
"protein_id": "XP_047288843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": -4,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7236,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_011521825.3",
"protein_id": "XP_011520127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1413,
"cds_start": -4,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4503,
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_047432888.1",
"protein_id": "XP_047288844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"hgvs_c": "c.70-213G>A",
"hgvs_p": null,
"transcript": "XM_047432889.1",
"protein_id": "XP_047288845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": -4,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTSL3",
"gene_hgnc_id": 14633,
"dbsnp": "rs11639223",
"frequency_reference_population": 0.1261321,
"hom_count_reference_population": 1564,
"allele_count_reference_population": 19191,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.126132,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19191,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1564,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.125,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_207517.3",
"gene_symbol": "ADAMTSL3",
"hgnc_id": 14633,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.70-213G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}