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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: 11-17404552-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17404552&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC8",
"hgnc_id": 59,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Val1195Met",
"inheritance_mode": "AD,AR,SD,Unknown",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001351295.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.0902,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 1, 2, familial, permanent neonatal 3, transient neonatal,12 conditions,Diabetes mellitus,Hyperinsulinemic hypoglycemia,Inborn genetic diseases,Leucine-induced hypoglycemia,Maturity onset diabetes mellitus in young,Monogenic diabetes,Permanent neonatal diabetes mellitus,Transitory neonatal diabetes mellitus,Type 2 diabetes mellitus,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:1 US:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3348059058189392,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "V",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3517,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_000352.6",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3517G>A",
"hgvs_p": "p.Val1173Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389817.8",
"protein_coding": true,
"protein_id": "NP_000343.2",
"strand": false,
"transcript": "NM_000352.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "V",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3517,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000389817.8",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3517G>A",
"hgvs_p": "p.Val1173Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000352.6",
"protein_coding": true,
"protein_id": "ENSP00000374467.4",
"strand": false,
"transcript": "ENST00000389817.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "V",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": 3652,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3583,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001351295.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Val1195Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338224.1",
"strand": false,
"transcript": "NM_001351295.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "V",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5336,
"cdna_start": 3614,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3583,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000644772.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Val1195Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494321.1",
"strand": false,
"transcript": "ENST00000644772.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "V",
"aa_start": 1174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4749,
"cds_start": 3520,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001287174.3",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3520G>A",
"hgvs_p": "p.Val1174Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274103.1",
"strand": false,
"transcript": "NM_001287174.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "V",
"aa_start": 1174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4749,
"cds_start": 3520,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000302539.9",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3520G>A",
"hgvs_p": "p.Val1174Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303960.4",
"strand": false,
"transcript": "ENST00000302539.9",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "V",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3517,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001351296.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3517G>A",
"hgvs_p": "p.Val1173Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338225.1",
"strand": false,
"transcript": "NM_001351296.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "V",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3517,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000643260.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3517G>A",
"hgvs_p": "p.Val1173Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494450.1",
"strand": false,
"transcript": "ENST00000643260.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "V",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 3583,
"cds_end": null,
"cds_length": 4743,
"cds_start": 3514,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001351297.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Val1172Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338226.1",
"strand": false,
"transcript": "NM_001351297.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "V",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 4743,
"cds_start": 3514,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000642271.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Val1172Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493749.1",
"strand": false,
"transcript": "ENST00000642271.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1570,
"aa_ref": "V",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 3582,
"cds_end": null,
"cds_length": 4713,
"cds_start": 3514,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000646902.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Val1172Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494101.1",
"strand": false,
"transcript": "ENST00000646902.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1542,
"aa_ref": "V",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 3610,
"cds_end": null,
"cds_length": 4629,
"cds_start": 3514,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000683136.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Val1172Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507768.1",
"strand": false,
"transcript": "ENST00000683136.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1528,
"aa_ref": "V",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 3399,
"cds_end": null,
"cds_length": 4587,
"cds_start": 3358,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000684571.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Val1120Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506935.1",
"strand": false,
"transcript": "ENST00000684571.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "V",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 3336,
"cds_end": null,
"cds_length": 4497,
"cds_start": 3268,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000647015.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Val1090Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495389.1",
"strand": false,
"transcript": "ENST00000647015.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 932,
"aa_ref": "V",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000642579.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Val534Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496714.1",
"strand": false,
"transcript": "ENST00000642579.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 444,
"aa_ref": "V",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 96,
"cds_end": null,
"cds_length": 1335,
"cds_start": 94,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000528374.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Val32Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433638.2",
"strand": false,
"transcript": "ENST00000528374.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000524561.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.3086G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524561.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000527905.5",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.*393G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431653.1",
"strand": false,
"transcript": "ENST00000527905.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000529967.6",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.1856G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529967.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000531137.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.10G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000531137.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
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