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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: 4-112547377-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112547377&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112547377,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018392.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Asp1836Asn",
"transcript": "NM_018392.5",
"protein_id": "NP_060862.3",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5506,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505019.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018392.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Asp1836Asn",
"transcript": "ENST00000505019.6",
"protein_id": "ENSP00000424737.1",
"transcript_support_level": 5,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5506,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018392.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505019.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Asp1836Asn",
"transcript": "ENST00000445203.6",
"protein_id": "ENSP00000390505.3",
"transcript_support_level": 5,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5506,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445203.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5332G>A",
"hgvs_p": "p.Asp1778Asn",
"transcript": "NM_001350397.2",
"protein_id": "NP_001337326.1",
"transcript_support_level": null,
"aa_start": 1778,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5332,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350397.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5332G>A",
"hgvs_p": "p.Asp1778Asn",
"transcript": "ENST00000925931.1",
"protein_id": "ENSP00000595990.1",
"transcript_support_level": null,
"aa_start": 1778,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5332,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925931.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5281G>A",
"hgvs_p": "p.Asp1761Asn",
"transcript": "ENST00000925932.1",
"protein_id": "ENSP00000595991.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 2029,
"cds_start": 5281,
"cds_end": null,
"cds_length": 6090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925932.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5272G>A",
"hgvs_p": "p.Asp1758Asn",
"transcript": "ENST00000925930.1",
"protein_id": "ENSP00000595989.1",
"transcript_support_level": null,
"aa_start": 1758,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5272,
"cds_end": null,
"cds_length": 6081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925930.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5272G>A",
"hgvs_p": "p.Asp1758Asn",
"transcript": "ENST00000925934.1",
"protein_id": "ENSP00000595993.1",
"transcript_support_level": null,
"aa_start": 1758,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5272,
"cds_end": null,
"cds_length": 6081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925934.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5248G>A",
"hgvs_p": "p.Asp1750Asn",
"transcript": "ENST00000925933.1",
"protein_id": "ENSP00000595992.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 2018,
"cds_start": 5248,
"cds_end": null,
"cds_length": 6057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925933.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Asp1836Asn",
"transcript": "XM_005263115.5",
"protein_id": "XP_005263172.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5506,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263115.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5455G>A",
"hgvs_p": "p.Asp1819Asn",
"transcript": "XM_011532091.3",
"protein_id": "XP_011530393.1",
"transcript_support_level": null,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2087,
"cds_start": 5455,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532091.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5455G>A",
"hgvs_p": "p.Asp1819Asn",
"transcript": "XM_047415909.1",
"protein_id": "XP_047271865.1",
"transcript_support_level": null,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2087,
"cds_start": 5455,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415909.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5446G>A",
"hgvs_p": "p.Asp1816Asn",
"transcript": "XM_011532092.3",
"protein_id": "XP_011530394.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5446,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532092.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5446G>A",
"hgvs_p": "p.Asp1816Asn",
"transcript": "XM_017008369.3",
"protein_id": "XP_016863858.1",
"transcript_support_level": null,
"aa_start": 1816,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5446,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008369.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5395G>A",
"hgvs_p": "p.Asp1799Asn",
"transcript": "XM_047415910.1",
"protein_id": "XP_047271866.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 2067,
"cds_start": 5395,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415910.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5332G>A",
"hgvs_p": "p.Asp1778Asn",
"transcript": "XM_047415911.1",
"protein_id": "XP_047271867.1",
"transcript_support_level": null,
"aa_start": 1778,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5332,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415911.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5281G>A",
"hgvs_p": "p.Asp1761Asn",
"transcript": "XM_017008370.2",
"protein_id": "XP_016863859.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 2029,
"cds_start": 5281,
"cds_end": null,
"cds_length": 6090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008370.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5281G>A",
"hgvs_p": "p.Asp1761Asn",
"transcript": "XM_047415912.1",
"protein_id": "XP_047271868.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 2029,
"cds_start": 5281,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415912.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5272G>A",
"hgvs_p": "p.Asp1758Asn",
"transcript": "XM_047415913.1",
"protein_id": "XP_047271869.1",
"transcript_support_level": null,
"aa_start": 1758,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5272,
"cds_end": null,
"cds_length": 6081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415913.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5272G>A",
"hgvs_p": "p.Asp1758Asn",
"transcript": "XM_047415914.1",
"protein_id": "XP_047271870.1",
"transcript_support_level": null,
"aa_start": 1758,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5272,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415914.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5248G>A",
"hgvs_p": "p.Asp1750Asn",
"transcript": "XM_011532094.3",
"protein_id": "XP_011530396.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 2018,
"cds_start": 5248,
"cds_end": null,
"cds_length": 6057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532094.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5248G>A",
"hgvs_p": "p.Asp1750Asn",
"transcript": "XM_047415915.1",
"protein_id": "XP_047271871.1",
"transcript_support_level": null,
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"biotype": "pseudogene",
"feature": "ENST00000754775.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "NEUROG2-AS1",
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"hgvs_c": "n.315-17511C>T",
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000754776.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "NEUROG2-AS1",
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"hgvs_c": "n.510+16877C>T",
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"transcript": "ENST00000754777.1",
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000754777.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "NEUROG2-AS1",
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"hgvs_c": "n.363+16877C>T",
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"transcript": "ENST00000754778.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000754778.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "NEUROG2-AS1",
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"hgvs_c": "n.491+16877C>T",
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"transcript": "ENST00000754779.1",
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"aa_end": null,
"aa_length": null,
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"cds_length": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000754779.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "NEUROG2-AS1",
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"hgvs_c": "n.364+16877C>T",
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"transcript": "ENST00000754780.1",
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"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": "ENST00000754780.1"
}
],
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"dbsnp": "rs758896729",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9353927373886108,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.765,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.138,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018392.5",
"gene_symbol": "ZGRF1",
"hgnc_id": 25654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Asp1836Asn"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000754766.1",
"gene_symbol": "NEUROG2-AS1",
"hgnc_id": 40656,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.412+16877C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}