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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: 11-17392873-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17392873&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17392873,
"ref": "T",
"alt": "C",
"effect": "non_coding_transcript_exon_variant",
"transcript": "NR_147094.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*2986A>G",
"hgvs_p": null,
"transcript": "ENST00000643562.1",
"protein_id": "ENSP00000496124.1",
"transcript_support_level": null,
"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": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.5159A>G",
"hgvs_p": null,
"transcript": "NR_147094.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "NM_001351295.2",
"protein_id": "NP_001338224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": -4,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "ENST00000644772.1",
"protein_id": "ENSP00000494321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1603,
"cds_start": -4,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "NM_001351296.2",
"protein_id": "NP_001338225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "NM_001351297.2",
"protein_id": "NP_001338226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": -4,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*2986A>G",
"hgvs_p": null,
"transcript": "ENST00000643562.1",
"protein_id": "ENSP00000496124.1",
"transcript_support_level": null,
"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": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "NM_000352.6",
"protein_id": "NP_000343.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "ENST00000389817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "ENST00000389817.8",
"protein_id": "ENSP00000374467.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "NM_000352.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "NM_001287174.3",
"protein_id": "NP_001274103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": -4,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "ENST00000302539.9",
"protein_id": "ENSP00000303960.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": -4,
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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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
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"transcript": "ENST00000643260.1",
"protein_id": "ENSP00000494450.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "ENST00000642271.1",
"protein_id": "ENSP00000493749.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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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": 39,
"intron_rank": null,
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"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.*118A>G",
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"transcript": "ENST00000646902.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "ABCC8",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "ABCC8",
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"hgvs_c": "c.*118A>G",
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"transcript": "ENST00000684571.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ABCC8",
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"hgvs_c": "c.*118A>G",
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"transcript": "ENST00000647015.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "ABCC8",
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"hgvs_c": "c.*118A>G",
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"transcript": "ENST00000642579.1",
"protein_id": "ENSP00000496714.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "ABCC8",
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"hgvs_c": "c.*118A>G",
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"transcript": "ENST00000528374.2",
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},
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],
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"intron_rank": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "ABCC8",
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},
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*24A>G",
"hgvs_p": null,
"transcript": "ENST00000526037.6",
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*551A>G",
"hgvs_p": null,
"transcript": "ENST00000526168.5",
"protein_id": "ENSP00000437233.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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},
{
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],
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"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": null,
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"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.788,
"phylop100way_prediction": "Benign",
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"dbscsnv_ada_score": null,
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"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
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"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
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"BS2"
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"verdict": "Benign",
"transcript": "NR_147094.2",
"gene_symbol": "ABCC8",
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"effects": [
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],
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],
"clinvar_disease": " Dominant, Dominant/Recessive,Hyperinsulinism,Maturity onset diabetes mellitus in young,Permanent neonatal diabetes mellitus,Transient Neonatal Diabetes,Transitory neonatal diabetes mellitus",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3",
"phenotype_combined": "Hyperinsulinism, Dominant/Recessive|Permanent neonatal diabetes mellitus|Transient Neonatal Diabetes, Dominant|Maturity onset diabetes mellitus in young|Transitory neonatal diabetes mellitus",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}