← Back to variant description
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: 2-49922220-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=49922220&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NRXN1",
"hgnc_id": 8008,
"hgvs_c": "c.4368G>T",
"hgvs_p": "p.Pro1456Pro",
"inheritance_mode": "Unknown,AR,AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001135659.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04500000178813934,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "P",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9038,
"cdna_start": 5321,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4248,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001330078.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4248G>T",
"hgvs_p": "p.Pro1416Pro",
"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": "P",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "P",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9038,
"cdna_start": 5321,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4248,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000401669.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4248G>T",
"hgvs_p": "p.Pro1416Pro",
"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": "P",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "P",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": 5708,
"cds_end": null,
"cds_length": 4644,
"cds_start": 4368,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000404971.5",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4368G>T",
"hgvs_p": "p.Pro1456Pro",
"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": "P",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "P",
"aa_start": 1405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 4398,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4215,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000625672.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4215G>T",
"hgvs_p": "p.Pro1405Pro",
"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": "P",
"aa_end": null,
"aa_length": 442,
"aa_ref": "P",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1053,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000342183.9",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1053G>T",
"hgvs_p": "p.Pro351Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341184.5",
"strand": false,
"transcript": "ENST00000342183.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 139,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 343,
"cds_end": null,
"cds_length": 420,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000412315.5",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.144G>T",
"hgvs_p": "p.Pro48Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396738.2",
"strand": false,
"transcript": "ENST00000412315.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "P",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9158,
"cdna_start": 5441,
"cds_end": null,
"cds_length": 4644,
"cds_start": 4368,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001135659.3",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4368G>T",
"hgvs_p": "p.Pro1456Pro",
"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": "P",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "P",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9035,
"cdna_start": 5318,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4245,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001330093.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4245G>T",
"hgvs_p": "p.Pro1415Pro",
"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": "P",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "P",
"aa_start": 1413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9029,
"cdna_start": 5312,
"cds_end": null,
"cds_length": 4515,
"cds_start": 4239,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001330086.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4239G>T",
"hgvs_p": "p.Pro1413Pro",
"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": "P",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "P",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 5300,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4227,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001330094.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4227G>T",
"hgvs_p": "p.Pro1409Pro",
"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": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9014,
"cdna_start": 5297,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4224,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001330077.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4224G>T",
"hgvs_p": "p.Pro1408Pro",
"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": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4500,
"cdna_start": 4224,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4224,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000630543.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4224G>T",
"hgvs_p": "p.Pro1408Pro",
"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": "P",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "P",
"aa_start": 1407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9011,
"cdna_start": 5294,
"cds_end": null,
"cds_length": 4497,
"cds_start": 4221,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001330085.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4221G>T",
"hgvs_p": "p.Pro1407Pro",
"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": "P",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "P",
"aa_start": 1405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9005,
"cdna_start": 5288,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4215,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001330082.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4215G>T",
"hgvs_p": "p.Pro1405Pro",
"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": "P",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "P",
"aa_start": 1404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": 5267,
"cds_end": null,
"cds_length": 4488,
"cds_start": 4212,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000405472.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4212G>T",
"hgvs_p": "p.Pro1404Pro",
"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": "P",
"aa_end": null,
"aa_length": 1485,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8972,
"cdna_start": 5255,
"cds_end": null,
"cds_length": 4458,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001330084.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4182G>T",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317013.1",
"strand": false,
"transcript": "NM_001330084.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "P",
"aa_start": 1386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8948,
"cdna_start": 5231,
"cds_end": null,
"cds_length": 4434,
"cds_start": 4158,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_004801.6",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4158G>T",
"hgvs_p": "p.Pro1386Pro",
"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": "P",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "P",
"aa_start": 1386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9375,
"cdna_start": 5660,
"cds_end": null,
"cds_length": 4434,
"cds_start": 4158,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000406316.6",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4158G>T",
"hgvs_p": "p.Pro1386Pro",
"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": "P",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "P",
"aa_start": 1369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8897,
"cdna_start": 5180,
"cds_end": null,
"cds_length": 4383,
"cds_start": 4107,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001330095.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4107G>T",
"hgvs_p": "p.Pro1369Pro",
"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": "P",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "P",
"aa_start": 1361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8873,
"cdna_start": 5156,
"cds_end": null,
"cds_length": 4359,
"cds_start": 4083,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001330083.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4083G>T",
"hgvs_p": "p.Pro1361Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317012.1",
"strand": false,
"transcript": "NM_001330083.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "P",
"aa_start": 1356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8858,
"cdna_start": 5141,
"cds_end": null,
"cds_length": 4344,
"cds_start": 4068,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001330088.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4068G>T",
"hgvs_p": "p.Pro1356Pro",
"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": "P",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "P",
"aa_start": 1349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8837,
"cdna_start": 5120,
"cds_end": null,
"cds_length": 4323,
"cds_start": 4047,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001330087.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4047G>T",
"hgvs_p": "p.Pro1349Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317016.1",
"strand": false,
"transcript": "NM_001330087.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "P",
"aa_start": 1346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8828,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 4314,
"cds_start": 4038,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001330096.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4038G>T",
"hgvs_p": "p.Pro1346Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317025.1",
"strand": false,
"transcript": "NM_001330096.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5718,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330092.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1143G>T",
"hgvs_p": "p.Pro381Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317021.1",
"strand": false,
"transcript": "NM_001330092.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000401710.5",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1143G>T",
"hgvs_p": "p.Pro381Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385580.2",
"strand": false,
"transcript": "ENST00000401710.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330091.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1134G>T",
"hgvs_p": "p.Pro378Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317020.1",
"strand": false,
"transcript": "NM_001330091.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000628364.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1134G>T",
"hgvs_p": "p.Pro378Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485815.1",
"strand": false,
"transcript": "ENST00000628364.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 442,
"aa_ref": "P",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5628,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1053,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_138735.5",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1053G>T",
"hgvs_p": "p.Pro351Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620072.1",
"strand": false,
"transcript": "NM_138735.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 439,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330097.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.1044G>T",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317026.1",
"strand": false,
"transcript": "NM_001330097.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 143,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3595,
"cdna_start": 271,
"cds_end": null,
"cds_length": 432,
"cds_start": 156,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636345.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Pro52Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489745.1",
"strand": false,
"transcript": "ENST00000636345.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 142,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4036,
"cdna_start": 319,
"cds_end": null,
"cds_length": 429,
"cds_start": 153,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001320156.4",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.153G>T",
"hgvs_p": "p.Pro51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307085.1",
"strand": false,
"transcript": "NM_001320156.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 142,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 356,
"cds_end": null,
"cds_length": 429,
"cds_start": 153,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378262.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.153G>T",
"hgvs_p": "p.Pro51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367510.4",
"strand": false,
"transcript": "ENST00000378262.7",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 139,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 310,
"cds_end": null,
"cds_length": 420,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001320157.4",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.144G>T",
"hgvs_p": "p.Pro48Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307086.1",
"strand": false,
"transcript": "NM_001320157.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 75,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": null,
"cds_end": null,
"cds_length": 228,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000630656.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.-49G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486993.1",
"strand": false,
"transcript": "ENST00000630656.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 62,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": null,
"cds_end": null,
"cds_length": 189,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000635519.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.*58G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489258.1",
"strand": false,
"transcript": "ENST00000635519.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000484192.3",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.168G>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": "ENST00000484192.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000629717.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.159G>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": "ENST00000629717.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000634412.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.393G>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": "ENST00000634412.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000634431.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.374G>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": "ENST00000634431.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000634764.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.353G>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": "ENST00000634764.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000635164.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.1191G>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": "ENST00000635164.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635264.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.1057G>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": "ENST00000635264.1",
"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": 1679,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637906.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.*673G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490198.1",
"strand": false,
"transcript": "ENST00000637906.1",
"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": 1679,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637906.1",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "n.*673G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490198.1",
"strand": false,
"transcript": "ENST00000637906.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.628,
"pos": 49922220,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.045,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001135659.3"
}
]
}