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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: 11-31726210-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31726210&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31726210,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000640961.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1144-57183T>C",
"hgvs_p": null,
"transcript": "NM_019040.5",
"protein_id": "NP_061913.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": "ENST00000640961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1144-57183T>C",
"hgvs_p": null,
"transcript": "ENST00000640961.2",
"protein_id": "ENSP00000492152.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": "NM_019040.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1433-37201T>C",
"hgvs_p": null,
"transcript": "ENST00000395934.2",
"protein_id": "ENSP00000379267.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1433-37201T>C",
"hgvs_p": null,
"transcript": "NM_001288726.2",
"protein_id": "NP_001275655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1147-37201T>C",
"hgvs_p": null,
"transcript": "NM_001288725.2",
"protein_id": "NP_001275654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1147-37201T>C",
"hgvs_p": null,
"transcript": "ENST00000379163.10",
"protein_id": "ENSP00000368461.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1144-37201T>C",
"hgvs_p": null,
"transcript": "ENST00000640231.1",
"protein_id": "ENSP00000492475.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.1147-57183T>C",
"hgvs_p": null,
"transcript": "ENST00000350638.10",
"protein_id": "ENSP00000298937.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.946-57183T>C",
"hgvs_p": null,
"transcript": "ENST00000638184.1",
"protein_id": "ENSP00000491155.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": -4,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.81+38508T>C",
"hgvs_p": null,
"transcript": "ENST00000638317.1",
"protein_id": "ENSP00000491924.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.112-54469T>C",
"hgvs_p": null,
"transcript": "ENST00000639182.1",
"protein_id": "ENSP00000491168.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 57,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 857,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000228061",
"gene_hgnc_id": 58222,
"hgvs_c": "n.471+41021A>G",
"hgvs_p": null,
"transcript": "ENST00000429821.5",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000228061",
"gene_hgnc_id": 58222,
"hgvs_c": "n.410-36774A>G",
"hgvs_p": null,
"transcript": "ENST00000454509.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ELP4",
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"hgvs_c": "n.4317-57183T>C",
"hgvs_p": null,
"transcript": "ENST00000638828.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"transcript": "ENST00000638917.1",
"protein_id": "ENSP00000491989.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "ELP4",
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"hgvs_c": "n.*794-57183T>C",
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"transcript": "ENST00000640081.1",
"protein_id": "ENSP00000491839.1",
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},
{
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],
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"gene_symbol": "ELP4",
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"transcript": "ENST00000640790.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ENSG00000228061",
"gene_hgnc_id": 58222,
"hgvs_c": "n.549+1577A>G",
"hgvs_p": null,
"transcript": "ENST00000648611.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "ENSG00000228061",
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"hgvs_c": "n.262+41021A>G",
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},
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],
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "ENSG00000228061",
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"hgvs_c": "n.410-36770A>G",
"hgvs_p": null,
"transcript": "ENST00000826486.1",
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"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228061",
"gene_hgnc_id": 58222,
"hgvs_c": "n.182+1577A>G",
"hgvs_p": null,
"transcript": "ENST00000826487.1",
"protein_id": null,
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},
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}
],
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"gnomad_genomes_ac": 45807,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.045,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000640961.2",
"gene_symbol": "ELP4",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000454509.6",
"gene_symbol": "ENSG00000228061",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.410-36774A>G",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_199065.1",
"gene_symbol": "ELP4-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.410-36770A>G",
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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
}