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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: 9-4267787-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=4267787&ref=G&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "9",
"pos": 4267787,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001042413.2",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "NM_001042413.2",
"protein_id": "NP_001035878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": "ENST00000381971.8",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "ENST00000381971.8",
"protein_id": "ENSP00000371398.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": "NM_001042413.2",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "ENST00000477901.5",
"protein_id": "ENSP00000417794.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1327,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "ENST00000481827.5",
"protein_id": "ENSP00000417883.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 944,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.-78+30597C>A",
"hgvs_p": null,
"transcript": "ENST00000478844.5",
"protein_id": "ENSP00000418005.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": -4,
"cds_end": null,
"cds_length": 268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.416+31634C>A",
"hgvs_p": null,
"transcript": "ENST00000490709.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.388+18251C>A",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7515,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "NM_001438906.1",
"protein_id": "NP_001425835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7149,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "NM_001438907.1",
"protein_id": "NP_001425836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7253,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "NM_001438908.1",
"protein_id": "NP_001425837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
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"cdna_length": 7596,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.-78+31634C>A",
"hgvs_p": null,
"transcript": "NM_001438909.1",
"protein_id": "NP_001425838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
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"cds_length": 2328,
"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,
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"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.-78+31634C>A",
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"transcript": "ENST00000682749.1",
"protein_id": "ENSP00000507306.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 10,
"intron_rank": 2,
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"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.-71+18251C>A",
"hgvs_p": null,
"transcript": "NM_001438911.1",
"protein_id": "NP_001425840.1",
"transcript_support_level": null,
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"cds_start": -4,
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],
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"intron_rank": 1,
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"gene_symbol": "GLIS3",
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"hgvs_c": "c.-71+31634C>A",
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"transcript": "NM_001438912.1",
"protein_id": "NP_001425841.1",
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"feature": null
},
{
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],
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"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
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"transcript": "NM_001438913.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "NM_001438914.1",
"protein_id": "NP_001425843.1",
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{
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"gene_symbol": "GLIS3",
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"hgvs_c": "c.-78+31634C>A",
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"transcript": "NM_001438915.1",
"protein_id": "NP_001425844.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.-71+18251C>A",
"hgvs_p": null,
"transcript": "NM_001438916.1",
"protein_id": "NP_001425845.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "GLIS3",
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"hgvs_c": "c.388+18251C>A",
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"transcript": "XM_011517763.3",
"protein_id": "XP_011516065.1",
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},
{
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],
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"gene_symbol": "GLIS3",
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"transcript": "XM_047422890.1",
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"gene_symbol": "GLIS3",
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"hgvs_c": "c.388+18251C>A",
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "XM_047422892.1",
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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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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.388+18251C>A",
"hgvs_p": null,
"transcript": "XM_047422893.1",
"protein_id": "XP_047278849.1",
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{
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],
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"gnomad_genomes_ac": 57713,
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"gnomad_genomes_homalt": 11097,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.8799999952316284,
"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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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.212,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": 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,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001042413.2",
"gene_symbol": "GLIS3",
"hgnc_id": 28510,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.388+18251C>A",
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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
}