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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: 11-231980-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=231980&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 231980,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000382743.9",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.706+1003G>T",
"hgvs_p": null,
"transcript": "NM_012239.6",
"protein_id": "NP_036371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "ENST00000382743.9",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.706+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000382743.9",
"protein_id": "ENSP00000372191.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "NM_012239.6",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.706+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370310.1",
"protein_id": "NP_001357239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2936,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.514+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370312.1",
"protein_id": "NP_001357241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2744,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.514+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000524564.5",
"protein_id": "ENSP00000432937.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.706+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370314.1",
"protein_id": "NP_001357243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2720,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.706+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000532956.5",
"protein_id": "ENSP00000433077.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1235,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.463+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370315.1",
"protein_id": "NP_001357244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2639,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.463+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000525319.5",
"protein_id": "ENSP00000435464.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1475,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370321.1",
"protein_id": "NP_001357250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2957,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370322.1",
"protein_id": "NP_001357251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370323.1",
"protein_id": "NP_001357252.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 275,
"cds_start": -4,
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"cdna_start": null,
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"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001017524.3",
"protein_id": "NP_001017524.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370318.1",
"protein_id": "NP_001357247.1",
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},
{
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],
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370319.1",
"protein_id": "NP_001357248.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370320.1",
"protein_id": "NP_001357249.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000529382.5",
"protein_id": "ENSP00000437216.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370324.1",
"protein_id": "NP_001357253.1",
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"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,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.280+1003G>T",
"hgvs_p": null,
"transcript": "NM_001370325.1",
"protein_id": "NP_001357254.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SIRT3",
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"hgvs_c": "c.135+4214G>T",
"hgvs_p": null,
"transcript": "NM_001370316.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SIRT3",
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"hgvs_c": "c.-10+4636G>T",
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"transcript": "NM_001370317.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "n.*321+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000526854.5",
"protein_id": "ENSP00000435505.1",
"transcript_support_level": 3,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "n.741+1003G>T",
"hgvs_p": null,
"transcript": "ENST00000528702.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
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{
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{
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],
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"gnomad_genomes_ac": 3,
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"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.09,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000382743.9",
"gene_symbol": "SIRT3",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}