← 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: X-71147800-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71147800&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71147800,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_181303.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "NM_181303.2",
"protein_id": "NP_851820.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 848,
"cds_start": 51,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": "ENST00000358741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000358741.4",
"protein_id": "ENSP00000351591.4",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 848,
"cds_start": 51,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": "NM_181303.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000374051.7",
"protein_id": "ENSP00000363163.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 828,
"cds_start": 51,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000395855.7",
"protein_id": "ENSP00000379196.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 528,
"cds_start": 51,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.290G>T",
"hgvs_p": null,
"transcript": "ENST00000476589.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.51G>T",
"hgvs_p": null,
"transcript": "ENST00000685718.1",
"protein_id": "ENSP00000510514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "NM_018977.4",
"protein_id": "NP_061850.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 828,
"cds_start": 51,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "NM_001166660.2",
"protein_id": "NP_001160132.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 808,
"cds_start": 51,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000536169.6",
"protein_id": "ENSP00000445298.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 808,
"cds_start": 51,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000687470.1",
"protein_id": "ENSP00000508881.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 793,
"cds_start": 51,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000689857.1",
"protein_id": "ENSP00000510719.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 758,
"cds_start": 51,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000689968.1",
"protein_id": "ENSP00000510150.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 735,
"cds_start": 51,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000692905.1",
"protein_id": "ENSP00000510435.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 548,
"cds_start": 51,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "ENST00000687568.1",
"protein_id": "ENSP00000509635.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 304,
"cds_start": 51,
"cds_end": null,
"cds_length": 915,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "XM_047442185.1",
"protein_id": "XP_047298141.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 848,
"cds_start": 51,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr",
"transcript": "XM_017029597.3",
"protein_id": "XP_016885086.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 580,
"cds_start": 51,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.395G>T",
"hgvs_p": null,
"transcript": "ENST00000688950.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.58G>T",
"hgvs_p": null,
"transcript": "ENST00000691045.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.395G>T",
"hgvs_p": null,
"transcript": "ENST00000692800.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-38-263G>T",
"hgvs_p": null,
"transcript": "NM_001437941.1",
"protein_id": "NP_001424870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-39+173G>T",
"hgvs_p": null,
"transcript": "NM_001438296.1",
"protein_id": "NP_001425225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-39+173G>T",
"hgvs_p": null,
"transcript": "ENST00000687220.1",
"protein_id": "ENSP00000509531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-38-263G>T",
"hgvs_p": null,
"transcript": "ENST00000688566.1",
"protein_id": "ENSP00000509202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-38-263G>T",
"hgvs_p": null,
"transcript": "NM_001321276.2",
"protein_id": "NP_001308205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-39+173G>T",
"hgvs_p": null,
"transcript": "NM_001438298.1",
"protein_id": "NP_001425227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-39+173G>T",
"hgvs_p": null,
"transcript": "ENST00000690133.1",
"protein_id": "ENSP00000508912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-38-263G>T",
"hgvs_p": null,
"transcript": "ENST00000692338.1",
"protein_id": "ENSP00000508700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.-39+173G>T",
"hgvs_p": null,
"transcript": "ENST00000690293.1",
"protein_id": "ENSP00000509154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228427",
"gene_hgnc_id": null,
"hgvs_c": "n.347-6949C>A",
"hgvs_p": null,
"transcript": "ENST00000740246.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.166+173G>T",
"hgvs_p": null,
"transcript": "XM_006724662.5",
"protein_id": "XP_006724725.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC124905197",
"gene_hgnc_id": null,
"hgvs_c": "n.1106+2483C>A",
"hgvs_p": null,
"transcript": "XR_007068262.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"dbsnp": "rs1330121111",
"frequency_reference_population": 9.1186877e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.11869e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.317,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_181303.2",
"gene_symbol": "NLGN3",
"hgnc_id": 14289,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Thr17Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000740246.1",
"gene_symbol": "ENSG00000228427",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.347-6949C>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007068262.1",
"gene_symbol": "LOC124905197",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1106+2483C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}