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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: 9-111530912-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=111530912&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 111530912,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_133464.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "NM_133464.5",
"protein_id": "NP_597721.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 744,
"cds_start": 450,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 14694,
"mane_select": "ENST00000309235.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "ENST00000309235.6",
"protein_id": "ENSP00000311679.5",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 744,
"cds_start": 450,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 14694,
"mane_select": "NM_133464.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "ENST00000355824.7",
"protein_id": "ENSP00000438048.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 244,
"cds_start": 450,
"cds_end": null,
"cds_length": 735,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "NM_001007169.6",
"protein_id": "NP_001007170.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 256,
"cds_start": 450,
"cds_end": null,
"cds_length": 771,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "ENST00000358151.8",
"protein_id": "ENSP00000350871.4",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 256,
"cds_start": 450,
"cds_end": null,
"cds_length": 771,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "XM_011518300.3",
"protein_id": "XP_011516602.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 744,
"cds_start": 450,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 15956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "XM_017014337.2",
"protein_id": "XP_016869826.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 744,
"cds_start": 450,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 14911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "XM_017014338.2",
"protein_id": "XP_016869827.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 744,
"cds_start": 450,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 14802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "XM_047422863.1",
"protein_id": "XP_047278819.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 744,
"cds_start": 450,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 14749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "XM_047422864.1",
"protein_id": "XP_047278820.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 256,
"cds_start": 450,
"cds_end": null,
"cds_length": 771,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu",
"transcript": "XM_017014339.2",
"protein_id": "XP_016869828.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 244,
"cds_start": 450,
"cds_end": null,
"cds_length": 735,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF483",
"gene_hgnc_id": 23384,
"dbsnp": "rs200679867",
"frequency_reference_population": 0.0000968802,
"hom_count_reference_population": 0,
"allele_count_reference_population": 150,
"gnomad_exomes_af": 0.000099429,
"gnomad_genomes_af": 0.0000731762,
"gnomad_exomes_ac": 139,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.751,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_133464.5",
"gene_symbol": "ZNF483",
"hgnc_id": 23384,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Glu150Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}