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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: 11-612843-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=612843&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 612843,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_004031.4",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1357-43A>C",
"hgvs_p": null,
"transcript": "NM_001572.5",
"protein_id": "NP_001563.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000525445.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001572.5"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1357-43A>C",
"hgvs_p": null,
"transcript": "ENST00000525445.6",
"protein_id": "ENSP00000434009.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001572.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525445.6"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1396-43A>C",
"hgvs_p": null,
"transcript": "ENST00000397566.5",
"protein_id": "ENSP00000380697.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397566.5"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1309-43A>C",
"hgvs_p": null,
"transcript": "ENST00000397570.5",
"protein_id": "ENSP00000380700.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397570.5"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1270-43A>C",
"hgvs_p": null,
"transcript": "ENST00000348655.11",
"protein_id": "ENSP00000331803.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348655.11"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "n.*636-43A>C",
"hgvs_p": null,
"transcript": "ENST00000469048.6",
"protein_id": "ENSP00000434607.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469048.6"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1396-43A>C",
"hgvs_p": null,
"transcript": "NM_004031.4",
"protein_id": "NP_004022.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004031.4"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1396-43A>C",
"hgvs_p": null,
"transcript": "ENST00000330243.9",
"protein_id": "ENSP00000329411.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330243.9"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1393-43A>C",
"hgvs_p": null,
"transcript": "NM_001440440.1",
"protein_id": "NP_001427369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": null,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440440.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1357-22A>C",
"hgvs_p": null,
"transcript": "ENST00000971587.1",
"protein_id": "ENSP00000641646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971587.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1357-43A>C",
"hgvs_p": null,
"transcript": "ENST00000858982.1",
"protein_id": "ENSP00000529041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858982.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1357-43A>C",
"hgvs_p": null,
"transcript": "ENST00000858983.1",
"protein_id": "ENSP00000529042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
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"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858983.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1354-43A>C",
"hgvs_p": null,
"transcript": "NM_001440442.1",
"protein_id": "NP_001427371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440442.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1309-43A>C",
"hgvs_p": null,
"transcript": "NM_001440444.1",
"protein_id": "NP_001427373.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001440444.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1270-43A>C",
"hgvs_p": null,
"transcript": "NM_004029.4",
"protein_id": "NP_004020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004029.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1270-43A>C",
"hgvs_p": null,
"transcript": "ENST00000971588.1",
"protein_id": "ENSP00000641647.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000971588.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1270-43A>C",
"hgvs_p": null,
"transcript": "ENST00000971589.1",
"protein_id": "ENSP00000641648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971589.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1267-43A>C",
"hgvs_p": null,
"transcript": "NM_001440445.1",
"protein_id": "NP_001427374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440445.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1252-43A>C",
"hgvs_p": null,
"transcript": "ENST00000971586.1",
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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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IRF7",
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"hgvs_c": "c.1072-43A>C",
"hgvs_p": null,
"transcript": "ENST00000858981.1",
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"biotype": "protein_coding",
"feature": "ENST00000858981.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.1057-43A>C",
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"transcript": "ENST00000935320.1",
"protein_id": "ENSP00000605379.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935320.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IRF7",
"gene_hgnc_id": 6122,
"hgvs_c": "c.985-43A>C",
"hgvs_p": null,
"transcript": "NM_001440446.1",
"protein_id": "NP_001427375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440446.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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],
"clinvar_disease": "Immunodeficiency 39,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Immunodeficiency 39|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}