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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: 16-49636614-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=49636614&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 49636614,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000563137.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2562C>A",
"hgvs_p": "p.Pro854Pro",
"transcript": "NM_001379286.1",
"protein_id": "NP_001366215.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2562,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 7968,
"mane_select": "ENST00000563137.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2562C>A",
"hgvs_p": "p.Pro854Pro",
"transcript": "ENST00000563137.7",
"protein_id": "ENSP00000455588.3",
"transcript_support_level": 5,
"aa_start": 854,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2562,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 7968,
"mane_select": "NM_001379286.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2358C>A",
"hgvs_p": "p.Pro786Pro",
"transcript": "ENST00000562520.1",
"protein_id": "ENSP00000457664.1",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2358,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2187C>A",
"hgvs_p": "p.Pro729Pro",
"transcript": "ENST00000567169.5",
"protein_id": "ENSP00000455061.1",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2538C>A",
"hgvs_p": "p.Pro846Pro",
"transcript": "NM_015069.5",
"protein_id": "NP_055884.2",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1284,
"cds_start": 2538,
"cds_end": null,
"cds_length": 3855,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 7659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2538C>A",
"hgvs_p": "p.Pro846Pro",
"transcript": "ENST00000561648.5",
"protein_id": "ENSP00000455426.1",
"transcript_support_level": 5,
"aa_start": 846,
"aa_end": null,
"aa_length": 1284,
"cds_start": 2538,
"cds_end": null,
"cds_length": 3855,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2358C>A",
"hgvs_p": "p.Pro786Pro",
"transcript": "NM_001271620.2",
"protein_id": "NP_001258549.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2358,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 7762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2358C>A",
"hgvs_p": "p.Pro786Pro",
"transcript": "ENST00000562871.5",
"protein_id": "ENSP00000457928.1",
"transcript_support_level": 5,
"aa_start": 786,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2358,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2187C>A",
"hgvs_p": "p.Pro729Pro",
"transcript": "NM_001330533.2",
"protein_id": "NP_001317462.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2187C>A",
"hgvs_p": "p.Pro729Pro",
"transcript": "ENST00000535559.5",
"protein_id": "ENSP00000442321.1",
"transcript_support_level": 2,
"aa_start": 729,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2805C>A",
"hgvs_p": "p.Pro935Pro",
"transcript": "XM_047433803.1",
"protein_id": "XP_047289759.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1373,
"cds_start": 2805,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3766,
"cdna_end": null,
"cdna_length": 8834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2631C>A",
"hgvs_p": "p.Pro877Pro",
"transcript": "XM_047433804.1",
"protein_id": "XP_047289760.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2631,
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"cds_length": 3948,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 8037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2610C>A",
"hgvs_p": "p.Pro870Pro",
"transcript": "XM_047433805.1",
"protein_id": "XP_047289761.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1308,
"cds_start": 2610,
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"cds_length": 3927,
"cdna_start": 3364,
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"cdna_length": 8432,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2583C>A",
"hgvs_p": "p.Pro861Pro",
"transcript": "XM_006721171.5",
"protein_id": "XP_006721234.1",
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},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2583C>A",
"hgvs_p": "p.Pro861Pro",
"transcript": "XM_047433806.1",
"protein_id": "XP_047289762.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2583,
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"cdna_start": 3243,
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"cdna_length": 8311,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2583C>A",
"hgvs_p": "p.Pro861Pro",
"transcript": "XM_047433807.1",
"protein_id": "XP_047289763.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2571C>A",
"hgvs_p": "p.Pro857Pro",
"transcript": "XM_047433808.1",
"protein_id": "XP_047289764.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2571,
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"cds_length": 3888,
"cdna_start": 3154,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2358C>A",
"hgvs_p": "p.Pro786Pro",
"transcript": "XM_005255856.5",
"protein_id": "XP_005255913.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
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"cds_start": 2358,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "ZNF423",
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"hgvs_c": "c.2358C>A",
"hgvs_p": "p.Pro786Pro",
"transcript": "XM_017023078.2",
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},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2358C>A",
"hgvs_p": "p.Pro786Pro",
"transcript": "XM_047433809.1",
"protein_id": "XP_047289765.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"hgvs_c": "c.2187C>A",
"hgvs_p": "p.Pro729Pro",
"transcript": "XM_047433810.1",
"protein_id": "XP_047289766.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2187,
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"cds_length": 3504,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 7387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF423",
"gene_hgnc_id": 16762,
"dbsnp": "rs12599354",
"frequency_reference_population": 0.013268349,
"hom_count_reference_population": 1493,
"allele_count_reference_population": 21414,
"gnomad_exomes_af": 0.0135702,
"gnomad_genomes_af": 0.0103693,
"gnomad_exomes_ac": 19836,
"gnomad_genomes_ac": 1578,
"gnomad_exomes_homalt": 1404,
"gnomad_genomes_homalt": 89,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.547,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000563137.7",
"gene_symbol": "ZNF423",
"hgnc_id": 16762,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.2562C>A",
"hgvs_p": "p.Pro854Pro"
}
],
"clinvar_disease": "Nephronophthisis 14,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Nephronophthisis 14|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}