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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: X-123671771-T-TAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=123671771&ref=T&alt=TAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 123671771,
"ref": "T",
"alt": "TAAA",
"effect": "intron_variant",
"transcript": "ENST00000245838.13",
"consequences": [
{
"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": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "NM_001081550.2",
"protein_id": "NP_001075019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1593,
"cds_start": -4,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": "ENST00000245838.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-11_769-10insTTT",
"hgvs_p": null,
"transcript": "ENST00000245838.13",
"protein_id": "ENSP00000245838.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1593,
"cds_start": -4,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": "NM_001081550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-11_769-10insTTT",
"hgvs_p": null,
"transcript": "ENST00000355725.8",
"protein_id": "ENSP00000347959.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1593,
"cds_start": -4,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.424-11_424-10insTTT",
"hgvs_p": null,
"transcript": "ENST00000491737.5",
"protein_id": "ENSP00000419795.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1478,
"cds_start": -4,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4452,
"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": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "NM_001441235.1",
"protein_id": "NP_001428164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1620,
"cds_start": -4,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5681,
"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": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "NM_001441236.1",
"protein_id": "NP_001428165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1593,
"cds_start": -4,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "n.*399-11_*399-10insTTT",
"hgvs_p": null,
"transcript": "ENST00000433883.1",
"protein_id": "ENSP00000415374.1",
"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": 876,
"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": 40,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "XM_047442263.1",
"protein_id": "XP_047298219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": -4,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5759,
"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": 40,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "XM_047442264.1",
"protein_id": "XP_047298220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": -4,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
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"cdna_length": 8169,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "XM_047442265.1",
"protein_id": "XP_047298221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1644,
"cds_start": -4,
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"cds_length": 4935,
"cdna_start": null,
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"cdna_length": 5753,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 8,
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"gene_symbol": "THOC2",
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"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "XM_047442266.1",
"protein_id": "XP_047298222.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "THOC2",
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"transcript": "XM_047442267.1",
"protein_id": "XP_047298223.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
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"gene_symbol": "THOC2",
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"hgvs_c": "c.769-13_769-11dupTTT",
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"transcript": "XM_047442268.1",
"protein_id": "XP_047298224.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "THOC2",
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"hgvs_c": "c.769-13_769-11dupTTT",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "THOC2",
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"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "XM_047442271.1",
"protein_id": "XP_047298227.1",
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},
{
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],
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"gene_symbol": "THOC2",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.769-13_769-11dupTTT",
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"transcript": "XM_047442273.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "THOC2",
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"hgvs_c": "c.769-13_769-11dupTTT",
"hgvs_p": null,
"transcript": "XM_017029679.2",
"protein_id": "XP_016885168.1",
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},
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],
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"gene_symbol": "THOC2",
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],
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"intron_rank": 8,
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"gene_symbol": "THOC2",
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},
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],
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"gene_symbol": "THOC2",
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"hgvs_c": "c.133-13_133-11dupTTT",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "c.133-13_133-11dupTTT",
"hgvs_p": null,
"transcript": "XM_047442278.1",
"protein_id": "XP_047298234.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "THOC2",
"gene_hgnc_id": 19073,
"hgvs_c": "n.799-13_799-11dupTTT",
"hgvs_p": null,
"transcript": "XR_007068195.1",
"protein_id": null,
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"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "THOC2",
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"dbsnp": "rs201356571",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.586,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000245838.13",
"gene_symbol": "THOC2",
"hgnc_id": 19073,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.769-11_769-10insTTT",
"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
}