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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: 2-50922680-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=50922680&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NRXN1",
"hgnc_id": 8008,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Ala299Ala",
"inheritance_mode": "Unknown,AR,AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001135659.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong",
"acmg_score": -10,
"allele_count_reference_population": 108,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "2",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "NRXN1-related disorder,Pitt-Hopkins-like syndrome 2,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9038,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4524,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330078.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000401669.7",
"protein_coding": true,
"protein_id": "NP_001317007.1",
"strand": false,
"transcript": "NM_001330078.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9038,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4524,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000401669.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330078.2",
"protein_coding": true,
"protein_id": "ENSP00000385017.2",
"strand": false,
"transcript": "ENST00000401669.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 4644,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000404971.5",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Ala299Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385142.1",
"strand": false,
"transcript": "ENST00000404971.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 981,
"cds_end": null,
"cds_length": 4491,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000625672.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485887.1",
"strand": false,
"transcript": "ENST00000625672.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 278,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5078,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 837,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405581.3",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385310.1",
"strand": false,
"transcript": "ENST00000405581.3",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9158,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 4644,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001135659.3",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Ala299Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129131.1",
"strand": false,
"transcript": "NM_001135659.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9035,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 4521,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330093.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Ala265Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317022.1",
"strand": false,
"transcript": "NM_001330093.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9029,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4515,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330086.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317015.1",
"strand": false,
"transcript": "NM_001330086.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4503,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330094.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317023.1",
"strand": false,
"transcript": "NM_001330094.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9014,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4500,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330077.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317006.1",
"strand": false,
"transcript": "NM_001330077.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4500,
"cdna_start": 798,
"cds_end": null,
"cds_length": 4500,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000630543.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486879.1",
"strand": false,
"transcript": "ENST00000630543.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9011,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4497,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330085.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317014.1",
"strand": false,
"transcript": "NM_001330085.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9005,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4491,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330082.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317011.1",
"strand": false,
"transcript": "NM_001330082.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 4488,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405472.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434015.2",
"strand": false,
"transcript": "ENST00000405472.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8948,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4434,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004801.6",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004792.1",
"strand": false,
"transcript": "NM_004801.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9375,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 4434,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000406316.6",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384311.2",
"strand": false,
"transcript": "ENST00000406316.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8897,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 4383,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330095.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317024.1",
"strand": false,
"transcript": "NM_001330095.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "A",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8858,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 4344,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001330088.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Ala260Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317017.1",
"strand": false,
"transcript": "NM_001330088.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 909,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330090.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317019.1",
"strand": false,
"transcript": "NM_001330090.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 882,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000637511.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ala266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490494.1",
"strand": false,
"transcript": "ENST00000637511.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5861,
"cdna_start": 798,
"cds_end": null,
"cds_length": 873,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675235.1",
"gene_hgnc_id": 8008,
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