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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: 16-2237111-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2237111&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2237111,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001374.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "NM_001374.3",
"protein_id": "NP_001365.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 218,
"cds_end": null,
"cds_length": 900,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": "ENST00000320700.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "ENST00000320700.10",
"protein_id": "ENSP00000316938.5",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 218,
"cds_end": null,
"cds_length": 900,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": "NM_001374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320700.10"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "ENST00000564065.5",
"protein_id": "ENSP00000454562.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 218,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564065.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "ENST00000567494.5",
"protein_id": "ENSP00000455358.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 218,
"cds_end": null,
"cds_length": 900,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567494.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "ENST00000382437.8",
"protein_id": "ENSP00000371874.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 278,
"cds_start": 218,
"cds_end": null,
"cds_length": 837,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382437.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "NM_001301680.2",
"protein_id": "NP_001288609.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 218,
"cds_end": null,
"cds_length": 900,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301680.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "ENST00000613572.4",
"protein_id": "ENSP00000482627.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 278,
"cds_start": 218,
"cds_end": null,
"cds_length": 837,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613572.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Met70Thr",
"transcript": "ENST00000569184.1",
"protein_id": "ENSP00000455478.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 253,
"cds_start": 209,
"cds_end": null,
"cds_length": 762,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569184.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr",
"transcript": "XM_047433684.1",
"protein_id": "XP_047289640.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 218,
"cds_end": null,
"cds_length": 900,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259780",
"gene_hgnc_id": null,
"hgvs_c": "n.-198A>G",
"hgvs_p": null,
"transcript": "ENST00000564055.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000564055.1"
}
],
"gene_symbol": "DNASE1L2",
"gene_hgnc_id": 2958,
"dbsnp": "rs2093513581",
"frequency_reference_population": 7.1538125e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.15381e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41593658924102783,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.3595,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.784,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001374.3",
"gene_symbol": "DNASE1L2",
"hgnc_id": 2958,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Met73Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000564055.1",
"gene_symbol": "ENSG00000259780",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-198A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}