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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: 5-33546145-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=33546145&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 33546145,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030955.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.4360C>T",
"hgvs_p": "p.Leu1454Phe",
"transcript": "NM_030955.4",
"protein_id": "NP_112217.2",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4360,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504830.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030955.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.4360C>T",
"hgvs_p": "p.Leu1454Phe",
"transcript": "ENST00000504830.6",
"protein_id": "ENSP00000422554.1",
"transcript_support_level": 1,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4360,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030955.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504830.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.4105C>T",
"hgvs_p": "p.Leu1369Phe",
"transcript": "ENST00000352040.7",
"protein_id": "ENSP00000344847.3",
"transcript_support_level": 1,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1509,
"cds_start": 4105,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352040.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.4105C>T",
"hgvs_p": "p.Leu1369Phe",
"transcript": "NM_001324512.2",
"protein_id": "NP_001311441.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1509,
"cds_start": 4105,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324512.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.4471C>T",
"hgvs_p": "p.Leu1491Phe",
"transcript": "XM_017009905.2",
"protein_id": "XP_016865394.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1631,
"cds_start": 4471,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009905.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Phe",
"transcript": "XM_017009906.1",
"protein_id": "XP_016865395.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1467,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009906.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.2914C>T",
"hgvs_p": "p.Leu972Phe",
"transcript": "XM_017009907.1",
"protein_id": "XP_016865396.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009907.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.2557C>T",
"hgvs_p": "p.Leu853Phe",
"transcript": "XM_017009908.1",
"protein_id": "XP_016865397.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 993,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009908.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"hgvs_c": "c.2545C>T",
"hgvs_p": "p.Leu849Phe",
"transcript": "XM_017009909.2",
"protein_id": "XP_016865398.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 989,
"cds_start": 2545,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009909.2"
}
],
"gene_symbol": "ADAMTS12",
"gene_hgnc_id": 14605,
"dbsnp": "rs1159355883",
"frequency_reference_population": 0.000009294798,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889328,
"gnomad_genomes_af": 0.0000131555,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11935845017433167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.417,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030955.4",
"gene_symbol": "ADAMTS12",
"hgnc_id": 14605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4360C>T",
"hgvs_p": "p.Leu1454Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}