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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: 11-17394380-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17394380&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABCC8",
"hgnc_id": 59,
"hgvs_c": "c.4497C>T",
"hgvs_p": "p.Gly1499Gly",
"inheritance_mode": "AD,AR,SD,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001351295.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 491,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 2, transient neonatal,Diabetes mellitus,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "G",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 4500,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4431,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_000352.6",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4431C>T",
"hgvs_p": "p.Gly1477Gly",
"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": "G",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "G",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 4500,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4431,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000389817.8",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4431C>T",
"hgvs_p": "p.Gly1477Gly",
"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": "G",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "G",
"aa_start": 1499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": 4566,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4497,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001351295.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4497C>T",
"hgvs_p": "p.Gly1499Gly",
"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": "G",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "G",
"aa_start": 1499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5336,
"cdna_start": 4528,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4497,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000644772.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4497C>T",
"hgvs_p": "p.Gly1499Gly",
"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": "G",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "G",
"aa_start": 1478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 4503,
"cds_end": null,
"cds_length": 4749,
"cds_start": 4434,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001287174.3",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4434C>T",
"hgvs_p": "p.Gly1478Gly",
"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": "G",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "G",
"aa_start": 1478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 4503,
"cds_end": null,
"cds_length": 4749,
"cds_start": 4434,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000302539.9",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4434C>T",
"hgvs_p": "p.Gly1478Gly",
"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": "G",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "G",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 4500,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4431,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001351296.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4431C>T",
"hgvs_p": "p.Gly1477Gly",
"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": "G",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "G",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 4500,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4431,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000643260.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4431C>T",
"hgvs_p": "p.Gly1477Gly",
"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": "G",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 4497,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4428,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001351297.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4428C>T",
"hgvs_p": "p.Gly1476Gly",
"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": "G",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 4463,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4428,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000642271.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4428C>T",
"hgvs_p": "p.Gly1476Gly",
"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": "G",
"aa_end": null,
"aa_length": 1570,
"aa_ref": "G",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 4466,
"cds_end": null,
"cds_length": 4713,
"cds_start": 4398,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000646902.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4398C>T",
"hgvs_p": "p.Gly1466Gly",
"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": "G",
"aa_end": null,
"aa_length": 1542,
"aa_ref": "G",
"aa_start": 1438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 4410,
"cds_end": null,
"cds_length": 4629,
"cds_start": 4314,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000683136.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4314C>T",
"hgvs_p": "p.Gly1438Gly",
"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": "G",
"aa_end": null,
"aa_length": 1528,
"aa_ref": "G",
"aa_start": 1424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 4313,
"cds_end": null,
"cds_length": 4587,
"cds_start": 4272,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000684571.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4272C>T",
"hgvs_p": "p.Gly1424Gly",
"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": "G",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "G",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 4250,
"cds_end": null,
"cds_length": 4497,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000647015.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.4182C>T",
"hgvs_p": "p.Gly1394Gly",
"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": "G",
"aa_end": null,
"aa_length": 932,
"aa_ref": "G",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 2799,
"cds_start": 2484,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000642579.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Gly828Gly",
"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": "G",
"aa_end": null,
"aa_length": 444,
"aa_ref": "G",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000528374.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Gly340Gly",
"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": 32,
"exon_rank_end": null,
"feature": "ENST00000524561.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.4032C>T",
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000525022.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.326C>T",
"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": "ENST00000525022.1",
"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": 775,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000526037.6",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.366C>T",
"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": "ENST00000526037.6",
"transcript_support_level": 3
},
{
"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": 537,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526168.5",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.*118C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437233.1",
"strand": false,
"transcript": "ENST00000526168.5",
"transcript_support_level": 2
},
{
"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": 24,
"exon_rank_end": null,
"feature": "ENST00000529967.6",
"gene_hgnc_id": 59,
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