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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: 21-36245332-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36245332&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36245332,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000691173.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "c.3352T>G",
"hgvs_p": "p.Cys1118Gly",
"transcript": "NM_001320714.2",
"protein_id": "NP_001307643.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3352,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 7746,
"mane_select": "ENST00000691173.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "c.3352T>G",
"hgvs_p": "p.Cys1118Gly",
"transcript": "ENST00000691173.1",
"protein_id": "ENSP00000509598.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3352,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 7746,
"mane_select": "NM_001320714.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "c.3352T>G",
"hgvs_p": "p.Cys1118Gly",
"transcript": "ENST00000399151.3",
"protein_id": "ENSP00000382104.3",
"transcript_support_level": 1,
"aa_start": 1118,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3352,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "c.3352T>G",
"hgvs_p": "p.Cys1118Gly",
"transcript": "NM_005128.4",
"protein_id": "NP_005119.2",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3352,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "c.2698T>G",
"hgvs_p": "p.Cys900Gly",
"transcript": "XM_017028509.2",
"protein_id": "XP_016883998.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 2080,
"cds_start": 2698,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 7273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "n.3352T>G",
"hgvs_p": null,
"transcript": "ENST00000685394.1",
"protein_id": "ENSP00000510500.1",
"transcript_support_level": null,
"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": 7063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "n.*2327T>G",
"hgvs_p": null,
"transcript": "ENST00000693273.1",
"protein_id": "ENSP00000510799.1",
"transcript_support_level": null,
"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": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "n.3498T>G",
"hgvs_p": null,
"transcript": "XR_007067795.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "n.3498T>G",
"hgvs_p": null,
"transcript": "XR_937581.4",
"protein_id": null,
"transcript_support_level": null,
"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": 6429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"hgvs_c": "n.*2327T>G",
"hgvs_p": null,
"transcript": "ENST00000693273.1",
"protein_id": "ENSP00000510799.1",
"transcript_support_level": null,
"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": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOP1B",
"gene_hgnc_id": 1291,
"dbsnp": "rs4817788",
"frequency_reference_population": 0.88325787,
"hom_count_reference_population": 630928,
"allele_count_reference_population": 1425610,
"gnomad_exomes_af": 0.880402,
"gnomad_genomes_af": 0.910679,
"gnomad_exomes_ac": 1286950,
"gnomad_genomes_ac": 138660,
"gnomad_exomes_homalt": 567580,
"gnomad_genomes_homalt": 63348,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.577192041528178e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0406,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.687,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000691173.1",
"gene_symbol": "DOP1B",
"hgnc_id": 1291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3352T>G",
"hgvs_p": "p.Cys1118Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}