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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: 19-54163088-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54163088&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54163088,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145303.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "NM_144686.4",
"protein_id": "NP_653287.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 706,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619895.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144686.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000619895.5",
"protein_id": "ENSP00000479458.1",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 706,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144686.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619895.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Gly456Ala",
"transcript": "ENST00000617472.4",
"protein_id": "ENSP00000477627.1",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 712,
"cds_start": 1367,
"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": "ENST00000617472.4"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "n.590G>C",
"hgvs_p": null,
"transcript": "ENST00000613723.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000613723.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Gly456Ala",
"transcript": "NM_001145303.3",
"protein_id": "NP_001138775.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 712,
"cds_start": 1367,
"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_001145303.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000883974.1",
"protein_id": "ENSP00000554033.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 705,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883974.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Gly444Ala",
"transcript": "ENST00000883975.1",
"protein_id": "ENSP00000554034.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 700,
"cds_start": 1331,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883975.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1271G>C",
"hgvs_p": "p.Gly424Ala",
"transcript": "ENST00000957113.1",
"protein_id": "ENSP00000627172.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 680,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957113.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000883973.1",
"protein_id": "ENSP00000554032.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 678,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883973.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000883983.1",
"protein_id": "ENSP00000554042.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 655,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883983.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000883976.1",
"protein_id": "ENSP00000554035.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 654,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883976.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000883980.1",
"protein_id": "ENSP00000554039.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 650,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883980.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1079G>C",
"hgvs_p": "p.Gly360Ala",
"transcript": "ENST00000883977.1",
"protein_id": "ENSP00000554036.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 616,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883977.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000883982.1",
"protein_id": "ENSP00000554041.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 610,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883982.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.1349G>C",
"hgvs_p": "p.Gly450Ala",
"transcript": "ENST00000883978.1",
"protein_id": "ENSP00000554037.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 601,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883978.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.968G>C",
"hgvs_p": "p.Gly323Ala",
"transcript": "ENST00000883981.1",
"protein_id": "ENSP00000554040.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 579,
"cds_start": 968,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883981.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.917G>C",
"hgvs_p": "p.Gly306Ala",
"transcript": "ENST00000883979.1",
"protein_id": "ENSP00000554038.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 562,
"cds_start": 917,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883979.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.869G>C",
"hgvs_p": "p.Gly290Ala",
"transcript": "ENST00000927553.1",
"protein_id": "ENSP00000597612.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 546,
"cds_start": 869,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927553.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.869G>C",
"hgvs_p": "p.Gly290Ala",
"transcript": "ENST00000957112.1",
"protein_id": "ENSP00000627171.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 452,
"cds_start": 869,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957112.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.869G>C",
"hgvs_p": "p.Gly290Ala",
"transcript": "ENST00000927552.1",
"protein_id": "ENSP00000597611.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 450,
"cds_start": 869,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927552.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Gly122Ala",
"transcript": "ENST00000927554.1",
"protein_id": "ENSP00000597613.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 378,
"cds_start": 365,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927554.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC4",
"gene_hgnc_id": 22998,
"hgvs_c": "c.887G>C",
"hgvs_p": "p.Gly296Ala",
"transcript": "XM_011526486.3",
"protein_id": "XP_011524788.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 552,
"cds_start": 887,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TMC4",
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"hgvs_c": "n.1410G>C",
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"transcript": "XR_935741.3",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_935741.3"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "TMC4",
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"hgvs_c": "n.*20G>C",
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"transcript": "ENST00000613492.4",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000613492.4"
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],
"gene_symbol": "TMC4",
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"dbsnp": "rs116092322",
"frequency_reference_population": 6.8404694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22706109285354614,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.263,
"revel_prediction": "Benign",
"alphamissense_score": 0.184,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.181,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001145303.3",
"gene_symbol": "TMC4",
"hgnc_id": 22998,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Gly456Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}