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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: 20-47627101-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=47627101&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 47627101,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181659.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_181659.3",
"protein_id": "NP_858045.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1424,
"cds_start": 457,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371998.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181659.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000371998.8",
"protein_id": "ENSP00000361066.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1424,
"cds_start": 457,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181659.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371998.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000372004.7",
"protein_id": "ENSP00000361073.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1420,
"cds_start": 457,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372004.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000371997.3",
"protein_id": "ENSP00000361065.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1415,
"cds_start": 457,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371997.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888900.1",
"protein_id": "ENSP00000558959.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1424,
"cds_start": 457,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888900.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888901.1",
"protein_id": "ENSP00000558960.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1424,
"cds_start": 457,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888901.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001174087.2",
"protein_id": "NP_001167558.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174087.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888893.1",
"protein_id": "ENSP00000558952.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888893.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888898.1",
"protein_id": "ENSP00000558957.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888898.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888899.1",
"protein_id": "ENSP00000558958.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888899.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888904.1",
"protein_id": "ENSP00000558963.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888904.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000938649.1",
"protein_id": "ENSP00000608708.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938649.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000938650.1",
"protein_id": "ENSP00000608709.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1423,
"cds_start": 457,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938650.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_006534.4",
"protein_id": "NP_006525.2",
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"aa_start": 153,
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"aa_length": 1420,
"cds_start": 457,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006534.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000938647.1",
"protein_id": "ENSP00000608706.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1420,
"cds_start": 457,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000938647.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000943160.1",
"protein_id": "ENSP00000613219.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1420,
"cds_start": 457,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943160.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888894.1",
"protein_id": "ENSP00000558953.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1419,
"cds_start": 457,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888894.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888896.1",
"protein_id": "ENSP00000558955.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
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"cds_start": 457,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888896.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888902.1",
"protein_id": "ENSP00000558961.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888902.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000938648.1",
"protein_id": "ENSP00000608707.1",
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"aa_start": 153,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938648.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001174088.2",
"protein_id": "NP_001167559.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1415,
"cds_start": 457,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174088.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888897.1",
"protein_id": "ENSP00000558956.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1408,
"cds_start": 457,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
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{
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"exon_count": 24,
"intron_rank": null,
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"hgvs_c": "c.457G>C",
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"transcript": "ENST00000888903.1",
"protein_id": "ENSP00000558962.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 23,
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"gene_symbol": "NCOA3",
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"transcript": "ENST00000938646.1",
"protein_id": "ENSP00000608705.1",
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"aa_end": null,
"aa_length": 1405,
"cds_start": 457,
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"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938646.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
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"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000888895.1",
"protein_id": "ENSP00000558954.1",
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"aa_start": 153,
"aa_end": null,
"aa_length": 1404,
"cds_start": 457,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888895.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "NCOA3",
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"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000938645.1",
"protein_id": "ENSP00000608704.1",
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"aa_start": 153,
"aa_end": null,
"aa_length": 1404,
"cds_start": 457,
"cds_end": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000938645.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"hgvs_c": "n.100G>C",
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"transcript": "ENST00000497292.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000497292.1"
}
],
"gene_symbol": "NCOA3",
"gene_hgnc_id": 7670,
"dbsnp": "rs373572972",
"frequency_reference_population": 0.000006199751,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000342281,
"gnomad_genomes_af": 0.0000328563,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18747639656066895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.3127,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.516,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_181659.3",
"gene_symbol": "NCOA3",
"hgnc_id": 7670,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu"
}
],
"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
}