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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: 11-17394413-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17394413&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17394413,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000389817.8",
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4412-14C>T",
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4412-14C>T",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.585C>T",
"hgvs_p": null,
"transcript": "ENST00000684014.1",
"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": 945,
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4478-14C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4478-14C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4415-14C>T",
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4415-14C>T",
"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,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4412-14C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4412-14C>T",
"hgvs_p": null,
"transcript": "ENST00000643260.1",
"protein_id": "ENSP00000494450.1",
"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": 4903,
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4409-14C>T",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4409-14C>T",
"hgvs_p": null,
"transcript": "ENST00000642271.1",
"protein_id": "ENSP00000493749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4379-14C>T",
"hgvs_p": null,
"transcript": "ENST00000646902.1",
"protein_id": "ENSP00000494101.1",
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"aa_start": null,
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"cdna_start": 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,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4295-14C>T",
"hgvs_p": null,
"transcript": "ENST00000683136.1",
"protein_id": "ENSP00000507768.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4253-14C>T",
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"transcript": "ENST00000684571.1",
"protein_id": "ENSP00000506935.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 34,
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"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.4163-14C>T",
"hgvs_p": null,
"transcript": "ENST00000647015.1",
"protein_id": "ENSP00000495389.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2465-14C>T",
"hgvs_p": null,
"transcript": "ENST00000642579.1",
"protein_id": "ENSP00000496714.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "ABCC8",
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"hgvs_c": "c.1001-14C>T",
"hgvs_p": null,
"transcript": "ENST00000528374.2",
"protein_id": "ENSP00000433638.2",
"transcript_support_level": 5,
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.4013-14C>T",
"hgvs_p": null,
"transcript": "ENST00000524561.2",
"protein_id": null,
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},
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.307-14C>T",
"hgvs_p": null,
"transcript": "ENST00000525022.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ABCC8",
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"transcript": "ENST00000526037.6",
"protein_id": null,
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},
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*99-14C>T",
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"transcript": "ENST00000526168.5",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2751-14C>T",
"hgvs_p": null,
"transcript": "ENST00000529967.6",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*256-14C>T",
"hgvs_p": null,
"transcript": "ENST00000531642.5",
"protein_id": "ENSP00000435378.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
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],
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"dbsnp": "rs193922404",
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"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.349,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
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"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000389817.8",
"gene_symbol": "ABCC8",
"hgnc_id": 59,
"effects": [
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],
"inheritance_mode": "AR,AD,Unknown,SD",
"hgvs_c": "c.4412-14C>T",
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}
],
"clinvar_disease": " 1, 2, familial, permanent neonatal 3, transient neonatal,ABCC8-related disorder,Diabetes mellitus,Hereditary hyperinsulinism,Hyperinsulinemic hypoglycemia,Leucine-induced hypoglycemia,Maturity onset diabetes mellitus in young,Transitory neonatal diabetes mellitus,Type 2 diabetes mellitus,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2",
"phenotype_combined": "not specified|Hereditary hyperinsulinism|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young|not provided|Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3|ABCC8-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}