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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: 19-35762107-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35762107&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35762107,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438802.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001367856.1",
"protein_id": "NP_001354785.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 724,
"cds_start": 400,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646935.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367856.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000646935.2",
"protein_id": "ENSP00000496769.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 724,
"cds_start": 400,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367856.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646935.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000396908.10",
"protein_id": "ENSP00000380116.5",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 480,
"cds_start": 400,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396908.10"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000537459.5",
"protein_id": "ENSP00000439886.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 194,
"cds_start": 400,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537459.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000536950.5",
"protein_id": "ENSP00000466822.1",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 193,
"cds_start": 400,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536950.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000696041.1",
"protein_id": "ENSP00000512346.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 795,
"cds_start": 400,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696041.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000696042.1",
"protein_id": "ENSP00000512347.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 791,
"cds_start": 400,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696042.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001438802.1",
"protein_id": "NP_001425731.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 730,
"cds_start": 400,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438802.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001395458.1",
"protein_id": "NP_001382387.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 724,
"cds_start": 400,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395458.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001395450.1",
"protein_id": "NP_001382379.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 723,
"cds_start": 400,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395450.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001438803.1",
"protein_id": "NP_001425732.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 713,
"cds_start": 400,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438803.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001395451.1",
"protein_id": "NP_001382380.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 712,
"cds_start": 400,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395451.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Gln34Lys",
"transcript": "ENST00000696040.1",
"protein_id": "ENSP00000512345.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 702,
"cds_start": 100,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696040.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Gln49Lys",
"transcript": "NM_001395452.1",
"protein_id": "NP_001382381.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 638,
"cds_start": 145,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395452.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Gln49Lys",
"transcript": "NM_001395453.1",
"protein_id": "NP_001382382.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 628,
"cds_start": 145,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395453.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Gln34Lys",
"transcript": "NM_001438804.1",
"protein_id": "NP_001425733.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 623,
"cds_start": 100,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438804.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.100C>A",
"hgvs_p": "p.Gln34Lys",
"transcript": "NM_001395454.1",
"protein_id": "NP_001382383.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 613,
"cds_start": 100,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395454.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001039887.3",
"protein_id": "NP_001034976.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 480,
"cds_start": 400,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039887.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.148C>A",
"hgvs_p": "p.Gln50Lys",
"transcript": "NM_001395455.1",
"protein_id": "NP_001382384.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 399,
"cds_start": 148,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395455.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "NM_001395456.1",
"protein_id": "NP_001382385.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 259,
"cds_start": 400,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395456.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys",
"transcript": "ENST00000301165.9",
"protein_id": "ENSP00000301165.5",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 254,
"cds_start": 400,
"cds_end": null,
"cds_length": 766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301165.9"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Gln49Lys",
"transcript": "NM_001395457.1",
"protein_id": "NP_001382386.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 173,
"cds_start": 145,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000620918.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "n.1584C>A",
"hgvs_p": null,
"transcript": "ENST00000696043.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000696043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "n.*14C>A",
"hgvs_p": null,
"transcript": "ENST00000539771.1",
"protein_id": "ENSP00000438803.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000539771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"hgvs_c": "n.155+2637C>A",
"hgvs_p": null,
"transcript": "ENST00000544876.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000544876.1"
}
],
"gene_symbol": "PROSER3",
"gene_hgnc_id": 25204,
"dbsnp": "rs1052945498",
"frequency_reference_population": 0.0000049703767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000411705,
"gnomad_genomes_af": 0.0000131422,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023355096578598022,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.1102,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.418,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001438802.1",
"gene_symbol": "PROSER3",
"hgnc_id": 25204,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Gln134Lys"
}
],
"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
}