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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: 2-50552667-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=50552667&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 50552667,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135659.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1679C>A",
"hgvs_p": "p.Thr560Asn",
"transcript": "NM_001330078.2",
"protein_id": "NP_001317007.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "ENST00000401669.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330078.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1679C>A",
"hgvs_p": "p.Thr560Asn",
"transcript": "ENST00000401669.7",
"protein_id": "ENSP00000385017.2",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "NM_001330078.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401669.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1799C>A",
"hgvs_p": "p.Thr600Asn",
"transcript": "ENST00000404971.5",
"protein_id": "ENSP00000385142.1",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 1547,
"cds_start": 1799,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404971.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Asn",
"transcript": "ENST00000625672.2",
"protein_id": "ENSP00000485887.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 1496,
"cds_start": 1655,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625672.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1799C>A",
"hgvs_p": "p.Thr600Asn",
"transcript": "NM_001135659.3",
"protein_id": "NP_001129131.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1547,
"cds_start": 1799,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135659.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1676C>A",
"hgvs_p": "p.Thr559Asn",
"transcript": "NM_001330093.2",
"protein_id": "NP_001317022.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1506,
"cds_start": 1676,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 2749,
"cdna_end": null,
"cdna_length": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330093.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1679C>A",
"hgvs_p": "p.Thr560Asn",
"transcript": "NM_001330086.2",
"protein_id": "NP_001317015.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1504,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 9029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330086.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1667C>A",
"hgvs_p": "p.Thr556Asn",
"transcript": "NM_001330094.2",
"protein_id": "NP_001317023.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1667,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330094.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Asn",
"transcript": "NM_001330077.2",
"protein_id": "NP_001317006.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1499,
"cds_start": 1655,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 9014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330077.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Asn",
"transcript": "ENST00000630543.2",
"protein_id": "ENSP00000486879.1",
"transcript_support_level": 5,
"aa_start": 552,
"aa_end": null,
"aa_length": 1499,
"cds_start": 1655,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630543.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1679C>A",
"hgvs_p": "p.Thr560Asn",
"transcript": "NM_001330085.2",
"protein_id": "NP_001317014.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1498,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330085.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Asn",
"transcript": "NM_001330082.2",
"protein_id": "NP_001317011.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1496,
"cds_start": 1655,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 9005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330082.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1643C>A",
"hgvs_p": "p.Thr548Asn",
"transcript": "ENST00000405472.7",
"protein_id": "ENSP00000434015.2",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 1495,
"cds_start": 1643,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 5724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405472.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1640C>A",
"hgvs_p": "p.Thr547Asn",
"transcript": "NM_001330084.2",
"protein_id": "NP_001317013.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1485,
"cds_start": 1640,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 8972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330084.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1679C>A",
"hgvs_p": "p.Thr560Asn",
"transcript": "NM_004801.6",
"protein_id": "NP_004792.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1477,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 8948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004801.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1679C>A",
"hgvs_p": "p.Thr560Asn",
"transcript": "ENST00000406316.6",
"protein_id": "ENSP00000384311.2",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 1477,
"cds_start": 1679,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 9375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406316.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Asn",
"transcript": "NM_001330095.2",
"protein_id": "NP_001317024.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1460,
"cds_start": 1655,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 8897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330095.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1640C>A",
"hgvs_p": "p.Thr547Asn",
"transcript": "NM_001330083.2",
"protein_id": "NP_001317012.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1452,
"cds_start": 1640,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 8873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330083.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1625C>A",
"hgvs_p": "p.Thr542Asn",
"transcript": "NM_001330088.2",
"protein_id": "NP_001317017.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1447,
"cds_start": 1625,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 8858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330088.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1595C>A",
"hgvs_p": "p.Thr532Asn",
"transcript": "NM_001330087.2",
"protein_id": "NP_001317016.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1595,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 8837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330087.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1595C>A",
"hgvs_p": "p.Thr532Asn",
"transcript": "NM_001330096.2",
"protein_id": "NP_001317025.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 1437,
"cds_start": 1595,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330096.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000495871.2",
"protein_id": "ENSP00000486185.1",
"transcript_support_level": 4,
"aa_start": 130,
"aa_end": null,
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},
{
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],
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{
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],
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},
{
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],
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{
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],
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"exon_count": 2,
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"gene_symbol": "NRXN1",
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"feature": "ENST00000637021.1"
},
{
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"upstream_gene_variant"
],
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"gene_symbol": "NRXN1",
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"transcript": "ENST00000637459.1",
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"cdna_length": 100,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000637459.1"
}
],
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"dbsnp": "rs200332295",
"frequency_reference_population": 0.0000020526857,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205269,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5169292092323303,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.932,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.16,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135659.3",
"gene_symbol": "NRXN1",
"hgnc_id": 8008,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.1799C>A",
"hgvs_p": "p.Thr600Asn"
}
],
"clinvar_disease": "Inborn genetic diseases,Pitt-Hopkins-like syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Pitt-Hopkins-like syndrome 2|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}