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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: 16-1452854-CAC-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1452854&ref=CAC&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CLCN7",
"hgnc_id": 2025,
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001287.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000260051",
"hgnc_id": 58480,
"hgvs_c": "n.*201_*203delCACinsTAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000563610.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 805,
"aa_ref": "V",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287.6",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382745.9",
"protein_coding": true,
"protein_id": "NP_001278.1",
"strand": false,
"transcript": "NM_001287.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 805,
"aa_ref": "V",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382745.9",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001287.6",
"protein_coding": true,
"protein_id": "ENSP00000372193.4",
"strand": false,
"transcript": "ENST00000382745.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 901,
"aa_ref": "V",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 2706,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262318.12",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1180_1182delGTGinsTTA",
"hgvs_p": "p.Val394Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262318.8",
"strand": false,
"transcript": "ENST00000262318.12",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 832,
"aa_ref": "V",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892994.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1333_1335delGTGinsTTA",
"hgvs_p": "p.Val445Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563053.1",
"strand": false,
"transcript": "ENST00000892994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 832,
"aa_ref": "V",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3841,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892996.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1333_1335delGTGinsTTA",
"hgvs_p": "p.Val445Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563055.1",
"strand": false,
"transcript": "ENST00000892996.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 829,
"aa_ref": "V",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892992.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1324_1326delGTGinsTTA",
"hgvs_p": "p.Val442Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563051.1",
"strand": false,
"transcript": "ENST00000892992.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 814,
"aa_ref": "V",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971708.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641767.1",
"strand": false,
"transcript": "ENST00000971708.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 808,
"aa_ref": "V",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699947.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514703.1",
"strand": false,
"transcript": "ENST00000699947.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 793,
"aa_ref": "V",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892995.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563054.1",
"strand": false,
"transcript": "ENST00000892995.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917692.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1189_1191delGTGinsTTA",
"hgvs_p": "p.Val397Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587751.1",
"strand": false,
"transcript": "ENST00000917692.1",
"transcript_support_level": null
},
{
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"aa_length": 781,
"aa_ref": "V",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001114331.3",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1180_1182delGTGinsTTA",
"hgvs_p": "p.Val394Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107803.1",
"strand": false,
"transcript": "NM_001114331.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 781,
"aa_ref": "V",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1180,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892993.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1180_1182delGTGinsTTA",
"hgvs_p": "p.Val394Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563052.1",
"strand": false,
"transcript": "ENST00000892993.1",
"transcript_support_level": null
},
{
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"aa_length": 778,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892998.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563057.1",
"strand": false,
"transcript": "ENST00000892998.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 774,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892997.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563056.1",
"strand": false,
"transcript": "ENST00000892997.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 766,
"aa_ref": "V",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917694.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1135_1137delGTGinsTTA",
"hgvs_p": "p.Val379Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587753.1",
"strand": false,
"transcript": "ENST00000917694.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 760,
"aa_ref": "V",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971709.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1117_1119delGTGinsTTA",
"hgvs_p": "p.Val373Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641768.1",
"strand": false,
"transcript": "ENST00000971709.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 731,
"aa_ref": "V",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917693.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1252_1254delGTGinsTTA",
"hgvs_p": "p.Val418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587752.1",
"strand": false,
"transcript": "ENST00000917693.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 747,
"aa_ref": "V",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522354.2",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "c.1078_1080delGTGinsTTA",
"hgvs_p": "p.Val360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520656.1",
"strand": false,
"transcript": "XM_011522354.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000699948.1",
"gene_hgnc_id": 2025,
"gene_symbol": "CLCN7",
"hgvs_c": "n.1252_1254delGTGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514704.1",
"strand": false,
"transcript": "ENST00000699948.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563610.1",
"gene_hgnc_id": 58480,
"gene_symbol": "ENSG00000260051",
"hgvs_c": "n.*201_*203delCACinsTAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000563610.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
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}
]
}