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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: 14-21102702-CAC-TAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21102702&ref=CAC&alt=TAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM253",
"hgnc_id": 32545,
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001146683.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF219",
"hgnc_id": 13011,
"hgvs_c": "c.-84+1807_-84+1809delGTGinsATA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001102454.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"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": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 612,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395467.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000556585.3",
"protein_coding": true,
"protein_id": "NP_001382396.1",
"strand": true,
"transcript": "NM_001395467.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 612,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556585.3",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395467.1",
"protein_coding": true,
"protein_id": "ENSP00000451229.2",
"strand": true,
"transcript": "ENST00000556585.3",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 964,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001146683.2",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001140155.1",
"strand": true,
"transcript": "NM_001146683.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1526,
"cdna_start": 863,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418511.6",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453962.1",
"strand": true,
"transcript": "ENST00000418511.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 962,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878425.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548484.1",
"strand": true,
"transcript": "ENST00000878425.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 854,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878426.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548485.1",
"strand": true,
"transcript": "ENST00000878426.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 930,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878427.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548486.1",
"strand": true,
"transcript": "ENST00000878427.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": 607,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878429.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548488.1",
"strand": true,
"transcript": "ENST00000878429.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 945,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919003.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589062.1",
"strand": true,
"transcript": "ENST00000919003.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 217,
"aa_ref": "H",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 867,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950456.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.457_459delCACinsTAT",
"hgvs_p": "p.His153Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620515.1",
"strand": true,
"transcript": "ENST00000950456.1",
"transcript_support_level": null
},
{
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"aa_length": 180,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 853,
"cds_end": null,
"cds_length": 543,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395464.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382393.1",
"strand": true,
"transcript": "NM_001395464.1",
"transcript_support_level": null
},
{
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"aa_length": 180,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 543,
"cds_start": 346,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878428.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548487.1",
"strand": true,
"transcript": "ENST00000878428.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1132,
"cdna_start": 473,
"cds_end": null,
"cds_length": 543,
"cds_start": 346,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878431.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548490.1",
"strand": true,
"transcript": "ENST00000878431.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 180,
"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 848,
"cds_end": null,
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"cds_start": 346,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000919006.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589065.1",
"strand": true,
"transcript": "ENST00000919006.1",
"transcript_support_level": null
},
{
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"aa_length": 180,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 826,
"cds_end": null,
"cds_length": 543,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919008.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589067.1",
"strand": true,
"transcript": "ENST00000919008.1",
"transcript_support_level": null
},
{
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"aa_length": 180,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 723,
"cds_end": null,
"cds_length": 543,
"cds_start": 346,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919009.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589068.1",
"strand": true,
"transcript": "ENST00000919009.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 159,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 776,
"cds_end": null,
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"cds_start": 283,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000919007.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.283_285delCACinsTAT",
"hgvs_p": "p.His95Tyr",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589066.1",
"strand": true,
"transcript": "ENST00000919007.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 754,
"cds_end": null,
"cds_length": 432,
"cds_start": 235,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950455.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.235_237delCACinsTAT",
"hgvs_p": "p.His79Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620514.1",
"strand": true,
"transcript": "ENST00000950455.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_start": 683,
"cds_end": null,
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"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950457.1",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.235_237delCACinsTAT",
"hgvs_p": "p.His79Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620516.1",
"strand": true,
"transcript": "ENST00000950457.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 126,
"aa_ref": "H",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 786,
"cdna_start": 751,
"cds_end": null,
"cds_length": 381,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554329.6",
"gene_hgnc_id": 32545,
"gene_symbol": "TMEM253",
"hgvs_c": "c.346_348delCACinsTAT",
"hgvs_p": "p.His116Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453121.1",
"strand": true,
"transcript": "ENST00000554329.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 122,
"aa_ref": "H",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 911,
"cds_end": null,
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}