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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: 11-31584349-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31584349&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ELP4",
"hgnc_id": 1171,
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001288726.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 6265,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.96,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9599999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8093,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_019040.5",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000640961.2",
"protein_coding": true,
"protein_id": "NP_061913.3",
"strand": true,
"transcript": "NM_019040.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8093,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640961.2",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019040.5",
"protein_coding": true,
"protein_id": "ENSP00000492152.1",
"strand": true,
"transcript": "ENST00000640961.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395934.2",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379267.2",
"strand": true,
"transcript": "ENST00000395934.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8521,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288726.2",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275655.1",
"strand": true,
"transcript": "NM_001288726.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8235,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288725.2",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275654.1",
"strand": true,
"transcript": "NM_001288725.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379163.10",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368461.5",
"strand": true,
"transcript": "ENST00000379163.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640231.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492475.1",
"strand": true,
"transcript": "ENST00000640231.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640954.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492376.1",
"strand": true,
"transcript": "ENST00000640954.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350638.10",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298937.9",
"strand": true,
"transcript": "ENST00000350638.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 425,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000640533.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492770.1",
"strand": true,
"transcript": "ENST00000640533.1",
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},
{
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"canonical": false,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000638482.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491641.1",
"strand": true,
"transcript": "ENST00000638482.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000948243.1",
"gene_hgnc_id": 1171,
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"protein_id": "ENSP00000618302.1",
"strand": true,
"transcript": "ENST00000948243.1",
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},
{
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],
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"feature": "ENST00000948241.1",
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"protein_coding": true,
"protein_id": "ENSP00000618300.1",
"strand": true,
"transcript": "ENST00000948241.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000948242.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.346-10421A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000618301.1",
"strand": true,
"transcript": "ENST00000948242.1",
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},
{
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],
"exon_count": 10,
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"feature": "ENST00000640342.1",
"gene_hgnc_id": 1171,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000492628.1",
"strand": true,
"transcript": "ENST00000640342.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000638347.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000492567.1",
"strand": true,
"transcript": "ENST00000638347.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000639570.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.382-10421A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491971.1",
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"transcript": "ENST00000639570.1",
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},
{
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],
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"feature": "ENST00000639878.1",
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"protein_coding": true,
"protein_id": "ENSP00000491157.1",
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},
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"consequences": [
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],
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"feature": "ENST00000919838.1",
"gene_hgnc_id": 1171,
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000638184.1",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "c.313-19416A>T",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491155.1",
"strand": true,
"transcript": "ENST00000638184.1",
"transcript_support_level": 5
},
{
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474374.5",
"gene_hgnc_id": 1171,
"gene_symbol": "ELP4",
"hgvs_c": "n.382-10421A>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432642.1",
"strand": true,
"transcript": "ENST00000474374.5",
"transcript_support_level": 5
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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