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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: 16-29807023-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29807023&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29807023,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042539.3",
"consequences": [
{
"aa_ref": "P",
"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": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "NM_002383.4",
"protein_id": "NP_002374.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 477,
"cds_start": 238,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322945.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002383.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"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": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "ENST00000322945.11",
"protein_id": "ENSP00000313362.6",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 477,
"cds_start": 238,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002383.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322945.11"
},
{
"aa_ref": "P",
"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": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "ENST00000219782.11",
"protein_id": "ENSP00000219782.6",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 493,
"cds_start": 238,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219782.11"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"transcript": "ENST00000545521.5",
"protein_id": "ENSP00000443956.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 454,
"cds_start": 169,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545521.5"
},
{
"aa_ref": "P",
"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": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "NM_001042539.3",
"protein_id": "NP_001036004.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 493,
"cds_start": 238,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042539.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"transcript": "NM_001276275.2",
"protein_id": "NP_001263204.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 454,
"cds_start": 169,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276275.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "ENST00000563402.1",
"protein_id": "ENSP00000457310.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 186,
"cds_start": 238,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563402.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "ENST00000566906.6",
"protein_id": "ENSP00000461174.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 184,
"cds_start": 238,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566906.6"
},
{
"aa_ref": "P",
"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": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "XM_047434110.1",
"protein_id": "XP_047290066.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 493,
"cds_start": 238,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434110.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Pro57Thr",
"transcript": "XM_047434111.1",
"protein_id": "XP_047290067.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 470,
"cds_start": 169,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434111.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr",
"transcript": "XM_047434113.1",
"protein_id": "XP_047290069.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 401,
"cds_start": 238,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434113.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.192+130C>A",
"hgvs_p": null,
"transcript": "NM_001276276.2",
"protein_id": "NP_001263205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276276.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "c.192+130C>A",
"hgvs_p": null,
"transcript": "ENST00000562337.5",
"protein_id": "ENSP00000455726.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562337.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "n.192+130C>A",
"hgvs_p": null,
"transcript": "ENST00000561855.1",
"protein_id": "ENSP00000456179.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000561855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259952",
"gene_hgnc_id": null,
"hgvs_c": "n.502+208G>T",
"hgvs_p": null,
"transcript": "ENST00000566537.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000566537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"hgvs_c": "n.365+130C>A",
"hgvs_p": null,
"transcript": "NR_074080.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_074080.2"
}
],
"gene_symbol": "MAZ",
"gene_hgnc_id": 6914,
"dbsnp": "rs988520613",
"frequency_reference_population": 0.0000023245489,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000232455,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08830451965332031,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.1263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.882,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001042539.3",
"gene_symbol": "MAZ",
"hgnc_id": 6914,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.238C>A",
"hgvs_p": "p.Pro80Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000566537.1",
"gene_symbol": "ENSG00000259952",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.502+208G>T",
"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
}