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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: 15-78788284-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78788284&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78788284,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000388820.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Ala423Ala",
"transcript": "NM_014272.5",
"protein_id": "NP_055087.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1686,
"cds_start": 1269,
"cds_end": null,
"cds_length": 5061,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": "ENST00000388820.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Ala423Ala",
"transcript": "ENST00000388820.5",
"protein_id": "ENSP00000373472.4",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 1686,
"cds_start": 1269,
"cds_end": null,
"cds_length": 5061,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": "NM_014272.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Ala423Ala",
"transcript": "XM_047432122.1",
"protein_id": "XP_047288078.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1269,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.510C>T",
"hgvs_p": "p.Ala170Ala",
"transcript": "XM_047432123.1",
"protein_id": "XP_047288079.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1436,
"cds_start": 510,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "n.1166C>T",
"hgvs_p": null,
"transcript": "ENST00000565793.5",
"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": 4249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "n.1256C>T",
"hgvs_p": null,
"transcript": "ENST00000566303.5",
"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": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "n.1281C>T",
"hgvs_p": null,
"transcript": "ENST00000568712.1",
"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": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"dbsnp": "rs3743060",
"frequency_reference_population": 0.0013545585,
"hom_count_reference_population": 12,
"allele_count_reference_population": 2186,
"gnomad_exomes_af": 0.00138419,
"gnomad_genomes_af": 0.00107019,
"gnomad_exomes_ac": 2023,
"gnomad_genomes_ac": 163,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.68,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000388820.5",
"gene_symbol": "ADAMTS7",
"hgnc_id": 223,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Ala423Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}