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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: 11-45925913-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45925913&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45925913,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_152312.5",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "NM_001300721.2",
"protein_id": "NP_001287650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401752.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300721.2"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000401752.6",
"protein_id": "ENSP00000385235.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300721.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401752.6"
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000325468.9",
"protein_id": "ENSP00000324570.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325468.9"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000861591.1",
"protein_id": "ENSP00000531650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861591.1"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000861590.1",
"protein_id": "ENSP00000531649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861590.1"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000861593.1",
"protein_id": "ENSP00000531652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861593.1"
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000926373.1",
"protein_id": "ENSP00000596432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926373.1"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.812-126G>C",
"hgvs_p": null,
"transcript": "ENST00000926377.1",
"protein_id": "ENSP00000596436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": null,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926377.1"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "NM_152312.5",
"protein_id": "NP_689525.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152312.5"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000531526.5",
"protein_id": "ENSP00000432869.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
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"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531526.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000861589.1",
"protein_id": "ENSP00000531648.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "LARGE2",
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"hgvs_c": "c.770-126G>C",
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"transcript": "ENST00000926368.1",
"protein_id": "ENSP00000596427.1",
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"feature": "ENST00000926368.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 6,
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"gene_symbol": "LARGE2",
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"hgvs_c": "c.770-126G>C",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "LARGE2",
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},
{
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"strand": true,
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],
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"intron_rank": 5,
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"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000926378.1",
"protein_id": "ENSP00000596437.1",
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},
{
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],
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"gene_symbol": "LARGE2",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.812-126G>C",
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"transcript": "ENST00000926381.1",
"protein_id": "ENSP00000596440.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.770-126G>C",
"hgvs_p": null,
"transcript": "ENST00000926369.1",
"protein_id": "ENSP00000596428.1",
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},
{
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],
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
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"hgvs_c": "c.677-126G>C",
"hgvs_p": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "LARGE2",
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},
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],
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"gene_symbol": "LARGE2",
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"hgvs_p": null,
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"biotype": "protein_coding",
"feature": "ENST00000926372.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.563-126G>C",
"hgvs_p": null,
"transcript": "ENST00000926376.1",
"protein_id": "ENSP00000596435.1",
"transcript_support_level": null,
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"feature": "ENST00000926376.1"
},
{
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"strand": true,
"consequences": [
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],
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"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.615,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_152312.5",
"gene_symbol": "LARGE2",
"hgnc_id": 16522,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.770-126G>C",
"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
}