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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: 1-11519413-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11519413&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11519413,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000294484.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "NM_020780.2",
"protein_id": "NP_065831.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1948,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": "ENST00000294484.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000294484.7",
"protein_id": "ENSP00000294484.6",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1948,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": "NM_020780.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011541828.4",
"protein_id": "XP_011540130.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1948,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_047426135.1",
"protein_id": "XP_047282091.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1041,
"cds_start": 1948,
"cds_end": null,
"cds_length": 3126,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Ala279Thr",
"transcript": "XM_011541829.2",
"protein_id": "XP_011540131.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1021,
"cds_start": 835,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011541830.3",
"protein_id": "XP_011540132.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 998,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011541831.3",
"protein_id": "XP_011540133.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 964,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011541832.2",
"protein_id": "XP_011540134.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 884,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011541833.2",
"protein_id": "XP_011540135.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 871,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_047426138.1",
"protein_id": "XP_047282094.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 861,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_011541835.2",
"protein_id": "XP_011540137.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 790,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DISP3",
"gene_hgnc_id": 29251,
"dbsnp": "rs2072994",
"frequency_reference_population": 0.5817224,
"hom_count_reference_population": 287725,
"allele_count_reference_population": 938573,
"gnomad_exomes_af": 0.593221,
"gnomad_genomes_af": 0.471173,
"gnomad_exomes_ac": 866949,
"gnomad_genomes_ac": 71624,
"gnomad_exomes_homalt": 266985,
"gnomad_genomes_homalt": 20740,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000036140497741143918,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.522,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000294484.7",
"gene_symbol": "DISP3",
"hgnc_id": 29251,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr"
}
],
"clinvar_disease": "DISP3-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "DISP3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}