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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: 1-27812184-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27812184&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27812184,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_177424.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Met164Ile",
"transcript": "NM_177424.3",
"protein_id": "NP_803173.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 276,
"cds_start": 492,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373943.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177424.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Met164Ile",
"transcript": "ENST00000373943.9",
"protein_id": "ENSP00000363054.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 276,
"cds_start": 492,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177424.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373943.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Met164Ile",
"transcript": "ENST00000961042.1",
"protein_id": "ENSP00000631101.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 291,
"cds_start": 492,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961042.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.486G>A",
"hgvs_p": "p.Met162Ile",
"transcript": "ENST00000893601.1",
"protein_id": "ENSP00000563660.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 274,
"cds_start": 486,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893601.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Met144Ile",
"transcript": "ENST00000961041.1",
"protein_id": "ENSP00000631100.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 256,
"cds_start": 432,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961041.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Met118Ile",
"transcript": "ENST00000893600.1",
"protein_id": "ENSP00000563659.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 230,
"cds_start": 354,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893600.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.561G>A",
"hgvs_p": "p.Met187Ile",
"transcript": "ENST00000440806.2",
"protein_id": "ENSP00000392577.2",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 214,
"cds_start": 561,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440806.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "c.427-5667G>A",
"hgvs_p": null,
"transcript": "ENST00000961043.1",
"protein_id": "ENSP00000631102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "n.65G>A",
"hgvs_p": null,
"transcript": "ENST00000472285.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"hgvs_c": "n.389G>A",
"hgvs_p": null,
"transcript": "ENST00000481874.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481874.1"
}
],
"gene_symbol": "STX12",
"gene_hgnc_id": 11430,
"dbsnp": "rs75245103",
"frequency_reference_population": 0.00008854804,
"hom_count_reference_population": 1,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.0000938716,
"gnomad_genomes_af": 0.0000393959,
"gnomad_exomes_ac": 132,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.035266876220703125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.1563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.836,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_177424.3",
"gene_symbol": "STX12",
"hgnc_id": 11430,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Met164Ile"
}
],
"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
}