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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: 17-50378832-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50378832&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50378832,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000338165.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "NM_152463.4",
"protein_id": "NP_689676.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 570,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": "ENST00000338165.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "ENST00000338165.9",
"protein_id": "ENSP00000339897.4",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 570,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": "NM_152463.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "ENST00000511648.6",
"protein_id": "ENSP00000421700.2",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 583,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2296,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "n.621T>C",
"hgvs_p": null,
"transcript": "ENST00000510007.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "NM_001166131.2",
"protein_id": "NP_001159603.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 583,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "ENST00000393271.6",
"protein_id": "ENSP00000376952.2",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 583,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"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": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Ile161Thr",
"transcript": "ENST00000510246.1",
"protein_id": "ENSP00000425567.1",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 335,
"cds_start": 482,
"cds_end": null,
"cds_length": 1009,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "XM_047435470.1",
"protein_id": "XP_047291426.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 570,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Ile321Thr",
"transcript": "XM_017024236.3",
"protein_id": "XP_016879725.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 541,
"cds_start": 962,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "XM_047435471.1",
"protein_id": "XP_047291427.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 456,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Ile193Thr",
"transcript": "XM_005257081.4",
"protein_id": "XP_005257138.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 413,
"cds_start": 578,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.80T>C",
"hgvs_p": "p.Ile27Thr",
"transcript": "XM_047435472.1",
"protein_id": "XP_047291428.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 247,
"cds_start": 80,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2407,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "n.231T>C",
"hgvs_p": null,
"transcript": "ENST00000513077.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 562,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "n.1122T>C",
"hgvs_p": null,
"transcript": "XR_007065270.1",
"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": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC59",
"gene_hgnc_id": 28817,
"hgvs_c": "c.17-2949A>G",
"hgvs_p": null,
"transcript": "ENST00000503118.2",
"protein_id": "ENSP00000459616.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "n.-51T>C",
"hgvs_p": null,
"transcript": "ENST00000514211.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"hgvs_c": "c.*151T>C",
"hgvs_p": null,
"transcript": "ENST00000511519.6",
"protein_id": "ENSP00000423029.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EME1",
"gene_hgnc_id": 24965,
"dbsnp": "rs12450550",
"frequency_reference_population": 0.25363183,
"hom_count_reference_population": 55826,
"allele_count_reference_population": 409376,
"gnomad_exomes_af": 0.258894,
"gnomad_genomes_af": 0.203085,
"gnomad_exomes_ac": 378471,
"gnomad_genomes_ac": 30905,
"gnomad_exomes_homalt": 52049,
"gnomad_genomes_homalt": 3777,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004383742809295654,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.038,
"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": "ENST00000338165.9",
"gene_symbol": "EME1",
"hgnc_id": 24965,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000503118.2",
"gene_symbol": "LRRC59",
"hgnc_id": 28817,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17-2949A>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
}