← 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: 11-130406119-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130406119&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ADAMTS8",
"hgnc_id": 224,
"hgvs_c": "c.2109C>T",
"hgvs_p": "p.Tyr703Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_007037.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZBTB44-DT",
"hgnc_id": 54265,
"hgvs_c": "n.320+12320G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000777858.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 889,
"aa_ref": "Y",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2109,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_007037.6",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.2109C>T",
"hgvs_p": "p.Tyr703Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257359.7",
"protein_coding": true,
"protein_id": "NP_008968.4",
"strand": false,
"transcript": "NM_007037.6",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 889,
"aa_ref": "Y",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2109,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000257359.7",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.2109C>T",
"hgvs_p": "p.Tyr703Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007037.6",
"protein_coding": true,
"protein_id": "ENSP00000257359.6",
"strand": false,
"transcript": "ENST00000257359.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 888,
"aa_ref": "Y",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3587,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2106,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000912959.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.2106C>T",
"hgvs_p": "p.Tyr702Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583018.1",
"strand": false,
"transcript": "ENST00000912959.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Y",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000875535.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Tyr687Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545594.1",
"strand": false,
"transcript": "ENST00000875535.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 809,
"aa_ref": "Y",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1869,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000912961.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.1869C>T",
"hgvs_p": "p.Tyr623Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583020.1",
"strand": false,
"transcript": "ENST00000912961.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "Y",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1623,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912962.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.1623C>T",
"hgvs_p": "p.Tyr541Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583021.1",
"strand": false,
"transcript": "ENST00000912962.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 687,
"aa_ref": "Y",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1503,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000912963.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.1503C>T",
"hgvs_p": "p.Tyr501Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583022.1",
"strand": false,
"transcript": "ENST00000912963.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 607,
"aa_ref": "Y",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912960.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.1263C>T",
"hgvs_p": "p.Tyr421Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583019.1",
"strand": false,
"transcript": "ENST00000912960.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Y",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017017145.2",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Tyr687Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872634.1",
"strand": false,
"transcript": "XM_017017145.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531752.1",
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"hgvs_c": "n.1056C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000531752.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777858.1",
"gene_hgnc_id": 54265,
"gene_symbol": "ZBTB44-DT",
"hgvs_c": "n.320+12320G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777858.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000777859.1",
"gene_hgnc_id": 54265,
"gene_symbol": "ZBTB44-DT",
"hgvs_c": "n.870+12320G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000777859.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199760382",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 224,
"gene_symbol": "ADAMTS8",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.573,
"pos": 130406119,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.25,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.25,
"transcript": "NM_007037.6"
}
]
}