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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: Y-14840423-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=14840423&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "Y",
"pos": 14840423,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001365584.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001365588.1",
"protein_id": "NP_001352517.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684976.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365588.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000684976.1",
"protein_id": "ENSP00000510011.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365588.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684976.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Gln595*",
"transcript": "ENST00000382868.5",
"protein_id": "ENSP00000372320.1",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 873,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382868.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Gln538*",
"transcript": "ENST00000339174.9",
"protein_id": "ENSP00000342535.5",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 816,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339174.9"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Gln538*",
"transcript": "ENST00000355905.6",
"protein_id": "ENSP00000348169.2",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 816,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355905.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Gln370*",
"transcript": "ENST00000382872.5",
"protein_id": "ENSP00000372325.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 648,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382872.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "n.2157C>T",
"hgvs_p": null,
"transcript": "ENST00000476359.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476359.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Gln570*",
"transcript": "ENST00000926508.1",
"protein_id": "ENSP00000596567.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 848,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926508.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Gln570*",
"transcript": "ENST00000926513.1",
"protein_id": "ENSP00000596572.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 848,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926513.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Gln570*",
"transcript": "ENST00000926516.1",
"protein_id": "ENSP00000596575.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 848,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926516.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001365584.1",
"protein_id": "NP_001352513.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365584.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001365586.1",
"protein_id": "NP_001352515.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365586.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "NM_001394830.1",
"protein_id": "NP_001381759.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394830.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000643089.1",
"protein_id": "ENSP00000496594.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643089.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000877962.1",
"protein_id": "ENSP00000548021.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877962.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000877963.1",
"protein_id": "ENSP00000548022.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877963.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000877964.1",
"protein_id": "ENSP00000548023.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877964.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000877965.1",
"protein_id": "ENSP00000548024.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877965.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000926509.1",
"protein_id": "ENSP00000596568.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926509.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000926510.1",
"protein_id": "ENSP00000596569.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926510.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000926511.1",
"protein_id": "ENSP00000596570.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926511.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*",
"transcript": "ENST00000926515.1",
"protein_id": "ENSP00000596574.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 836,
"cds_start": 1672,
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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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"gene_symbol": "NLGN4Y",
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"biotype": "protein_coding",
"feature": "XM_017030039.2"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "NLGN4Y",
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"hgvs_c": "c.1108C>T",
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"transcript": "XM_017030040.2",
"protein_id": "XP_016885529.1",
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"cds_start": 1108,
"cds_end": null,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_017030040.2"
}
],
"gene_symbol": "NLGN4Y",
"gene_hgnc_id": 15529,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000826055,
"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": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.728,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001365584.1",
"gene_symbol": "NLGN4Y",
"hgnc_id": 15529,
"effects": [
"stop_gained"
],
"inheritance_mode": "YL",
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Gln558*"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}