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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: 9-97568978-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=97568978&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 97568978,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003275.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "NM_003275.4",
"protein_id": "NP_003266.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259365.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003275.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000259365.9",
"protein_id": "ENSP00000259365.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003275.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259365.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000395211.6",
"protein_id": "ENSP00000378637.2",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395211.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Cys",
"transcript": "ENST00000950655.1",
"protein_id": "ENSP00000620714.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 436,
"cds_start": 934,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950655.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Cys",
"transcript": "ENST00000900211.1",
"protein_id": "ENSP00000570270.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 400,
"cds_start": 934,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900211.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000900215.1",
"protein_id": "ENSP00000570274.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 395,
"cds_start": 811,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900215.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000950653.1",
"protein_id": "ENSP00000620712.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 392,
"cds_start": 811,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950653.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Cys",
"transcript": "ENST00000900217.1",
"protein_id": "ENSP00000570276.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 390,
"cds_start": 904,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900217.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000950654.1",
"protein_id": "ENSP00000620713.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 387,
"cds_start": 895,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950654.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "NM_001166116.2",
"protein_id": "NP_001159588.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166116.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000900218.1",
"protein_id": "ENSP00000570277.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900218.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000950660.1",
"protein_id": "ENSP00000620719.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950660.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000950661.1",
"protein_id": "ENSP00000620720.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 359,
"cds_start": 811,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950661.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys",
"transcript": "ENST00000950652.1",
"protein_id": "ENSP00000620711.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 357,
"cds_start": 811,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950652.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000900212.1",
"protein_id": "ENSP00000570271.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 351,
"cds_start": 787,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900212.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000900216.1",
"protein_id": "ENSP00000570275.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 335,
"cds_start": 739,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900216.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Cys",
"transcript": "ENST00000900214.1",
"protein_id": "ENSP00000570273.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 329,
"cds_start": 721,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900214.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Cys",
"transcript": "ENST00000950657.1",
"protein_id": "ENSP00000620716.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 323,
"cds_start": 703,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950657.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Cys",
"transcript": "ENST00000950659.1",
"protein_id": "ENSP00000620718.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 319,
"cds_start": 691,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950659.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Cys",
"transcript": "ENST00000900213.1",
"protein_id": "ENSP00000570272.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 308,
"cds_start": 658,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900213.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Cys",
"transcript": "ENST00000937335.1",
"protein_id": "ENSP00000607394.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 305,
"cds_start": 649,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937335.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Cys",
"transcript": "ENST00000375175.1",
"protein_id": "ENSP00000364318.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 232,
"cds_start": 430,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375175.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "XM_047423825.1",
"protein_id": "XP_047279781.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 223,
"cds_start": 403,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423825.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.726+3023C>T",
"hgvs_p": null,
"transcript": "ENST00000950658.1",
"protein_id": "ENSP00000620717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.121-22313C>T",
"hgvs_p": null,
"transcript": "ENST00000950656.1",
"protein_id": "ENSP00000620715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950656.1"
}
],
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"dbsnp": "rs375913710",
"frequency_reference_population": 0.000032217693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000328347,
"gnomad_genomes_af": 0.0000262892,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2447826862335205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0813,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.33,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003275.4",
"gene_symbol": "TMOD1",
"hgnc_id": 11871,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Cys"
}
],
"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
}