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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: 5-16474857-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=16474857&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 16474857,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000306320.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1378C>G",
"hgvs_p": "p.Gln460Glu",
"transcript": "NM_001034850.3",
"protein_id": "NP_001030022.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 497,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "ENST00000306320.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1378C>G",
"hgvs_p": "p.Gln460Glu",
"transcript": "ENST00000306320.10",
"protein_id": "ENSP00000304642.9",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 497,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "NM_001034850.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Gln319Glu",
"transcript": "ENST00000399793.6",
"protein_id": "ENSP00000382691.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 356,
"cds_start": 955,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.853C>G",
"hgvs_p": null,
"transcript": "ENST00000510362.6",
"protein_id": "ENSP00000425089.2",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1534C>G",
"hgvs_p": "p.Gln512Glu",
"transcript": "ENST00000682229.1",
"protein_id": "ENSP00000507342.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 549,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1375C>G",
"hgvs_p": "p.Gln459Glu",
"transcript": "ENST00000682564.1",
"protein_id": "ENSP00000508099.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 496,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1240C>G",
"hgvs_p": "p.Gln414Glu",
"transcript": "ENST00000684521.1",
"protein_id": "ENSP00000507521.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 451,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Gln359Glu",
"transcript": "ENST00000682142.1",
"protein_id": "ENSP00000506804.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 396,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Gln319Glu",
"transcript": "NM_019000.5",
"protein_id": "NP_061873.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 356,
"cds_start": 955,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Gln285Glu",
"transcript": "ENST00000682628.1",
"protein_id": "ENSP00000507536.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 322,
"cds_start": 853,
"cds_end": null,
"cds_length": 969,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Gln285Glu",
"transcript": "ENST00000683414.1",
"protein_id": "ENSP00000508335.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 322,
"cds_start": 853,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Gln285Glu",
"transcript": "ENST00000683539.1",
"protein_id": "ENSP00000507466.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 322,
"cds_start": 853,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Gln104Glu",
"transcript": "ENST00000684456.1",
"protein_id": "ENSP00000508060.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 141,
"cds_start": 310,
"cds_end": null,
"cds_length": 426,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1498C>G",
"hgvs_p": "p.Gln500Glu",
"transcript": "XM_011514053.4",
"protein_id": "XP_011512355.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 537,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Gln359Glu",
"transcript": "XM_011514054.3",
"protein_id": "XP_011512356.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 396,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.979C>G",
"hgvs_p": "p.Gln327Glu",
"transcript": "XM_011514055.4",
"protein_id": "XP_011512357.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 364,
"cds_start": 979,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.1026C>G",
"hgvs_p": null,
"transcript": "ENST00000509977.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.2152C>G",
"hgvs_p": null,
"transcript": "ENST00000682982.1",
"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": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.5922C>G",
"hgvs_p": null,
"transcript": "ENST00000683045.1",
"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": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*624C>G",
"hgvs_p": null,
"transcript": "ENST00000683130.1",
"protein_id": "ENSP00000507709.1",
"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": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.1877C>G",
"hgvs_p": null,
"transcript": "ENST00000683169.1",
"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": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*677C>G",
"hgvs_p": null,
"transcript": "ENST00000683527.1",
"protein_id": "ENSP00000507253.1",
"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": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.3648C>G",
"hgvs_p": null,
"transcript": "ENST00000684695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5434,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.*371C>G",
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"transcript": "ENST00000682033.1",
"protein_id": "ENSP00000507240.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
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"cds_length": 132,
"cdna_start": null,
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"cdna_length": 536,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*624C>G",
"hgvs_p": null,
"transcript": "ENST00000683130.1",
"protein_id": "ENSP00000507709.1",
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"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": 1694,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"intron_rank_end": null,
"gene_symbol": "RETREG1",
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"hgvs_c": "n.*677C>G",
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"transcript": "ENST00000683527.1",
"protein_id": "ENSP00000507253.1",
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"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": 3170,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289112",
"gene_hgnc_id": null,
"hgvs_c": "n.501-322G>C",
"hgvs_p": null,
"transcript": "ENST00000747818.1",
"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": 643,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"dbsnp": "rs1554014585",
"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": 0.83584064245224,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.979,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000306320.10",
"gene_symbol": "RETREG1",
"hgnc_id": 25964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1378C>G",
"hgvs_p": "p.Gln460Glu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000747818.1",
"gene_symbol": "ENSG00000289112",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.501-322G>C",
"hgvs_p": null
}
],
"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
}