← 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: 5-16477698-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=16477698&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 16477698,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000306320.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Ser322Pro",
"transcript": "NM_001034850.3",
"protein_id": "NP_001030022.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 497,
"cds_start": 964,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "ENST00000306320.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Ser322Pro",
"transcript": "ENST00000306320.10",
"protein_id": "ENSP00000304642.9",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 497,
"cds_start": 964,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "NM_001034850.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Ser181Pro",
"transcript": "ENST00000399793.6",
"protein_id": "ENSP00000382691.2",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 356,
"cds_start": 541,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 927,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.439T>C",
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1120T>C",
"hgvs_p": "p.Ser374Pro",
"transcript": "ENST00000682229.1",
"protein_id": "ENSP00000507342.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 549,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Ser321Pro",
"transcript": "ENST00000682564.1",
"protein_id": "ENSP00000508099.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 496,
"cds_start": 961,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Ser276Pro",
"transcript": "ENST00000684521.1",
"protein_id": "ENSP00000507521.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 451,
"cds_start": 826,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.661T>C",
"hgvs_p": "p.Ser221Pro",
"transcript": "ENST00000682142.1",
"protein_id": "ENSP00000506804.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 396,
"cds_start": 661,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Ser181Pro",
"transcript": "NM_019000.5",
"protein_id": "NP_061873.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 356,
"cds_start": 541,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Ser147Pro",
"transcript": "ENST00000682628.1",
"protein_id": "ENSP00000507536.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 322,
"cds_start": 439,
"cds_end": null,
"cds_length": 969,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Ser147Pro",
"transcript": "ENST00000683414.1",
"protein_id": "ENSP00000508335.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 322,
"cds_start": 439,
"cds_end": null,
"cds_length": 969,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Ser147Pro",
"transcript": "ENST00000683539.1",
"protein_id": "ENSP00000507466.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 322,
"cds_start": 439,
"cds_end": null,
"cds_length": 969,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1084T>C",
"hgvs_p": "p.Ser362Pro",
"transcript": "XM_011514053.4",
"protein_id": "XP_011512355.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 537,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.661T>C",
"hgvs_p": "p.Ser221Pro",
"transcript": "XM_011514054.3",
"protein_id": "XP_011512356.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 396,
"cds_start": 661,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.565T>C",
"hgvs_p": "p.Ser189Pro",
"transcript": "XM_011514055.4",
"protein_id": "XP_011512357.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 364,
"cds_start": 565,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1080,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.612T>C",
"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": 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.1738T>C",
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.5508T>C",
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*210T>C",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.1463T>C",
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*263T>C",
"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": 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.3234T>C",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.-105T>C",
"hgvs_p": null,
"transcript": "ENST00000684456.1",
"protein_id": "ENSP00000508060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": -4,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*210T>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*263T>C",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.126-2464T>C",
"hgvs_p": null,
"transcript": "ENST00000682033.1",
"protein_id": "ENSP00000507240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"dbsnp": "rs1554014877",
"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": 0.8510477542877197,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.547,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.543,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": "ENST00000306320.10",
"gene_symbol": "RETREG1",
"hgnc_id": 25964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.964T>C",
"hgvs_p": "p.Ser322Pro"
}
],
"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
}