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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: 16-19463840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19463840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19463840,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001105248.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "NM_001261841.2",
"protein_id": "NP_001248770.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000542583.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261841.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000542583.7",
"protein_id": "ENSP00000446274.2",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001261841.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542583.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000381414.8",
"protein_id": "ENSP00000370822.4",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 948,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381414.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Thr188Met",
"transcript": "ENST00000219821.9",
"protein_id": "ENSP00000219821.5",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 760,
"cds_start": 563,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219821.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Met",
"transcript": "ENST00000856997.1",
"protein_id": "ENSP00000527056.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1364,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856997.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "NM_001105248.1",
"protein_id": "NP_001098718.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105248.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000396229.6",
"protein_id": "ENSP00000379531.2",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396229.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000856996.1",
"protein_id": "ENSP00000527055.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856996.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000856999.1",
"protein_id": "ENSP00000527058.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856999.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000857001.1",
"protein_id": "ENSP00000527060.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857001.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000949094.1",
"protein_id": "ENSP00000619153.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949094.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000857000.1",
"protein_id": "ENSP00000527059.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 998,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857000.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "NM_001308161.1",
"protein_id": "NP_001295090.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 954,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308161.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000541464.5",
"protein_id": "ENSP00000441227.1",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 954,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541464.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000856998.1",
"protein_id": "ENSP00000527057.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 954,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856998.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "ENST00000949093.1",
"protein_id": "ENSP00000619152.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 954,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949093.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met",
"transcript": "NM_001105249.1",
"protein_id": "NP_001098719.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 948,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105249.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Thr188Met",
"transcript": "NM_024780.5",
"protein_id": "NP_079056.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 760,
"cds_start": 563,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024780.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "ENST00000564959.1",
"protein_id": "ENSP00000454710.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 689,
"cds_start": 350,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564959.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Thr75Met",
"transcript": "ENST00000561503.5",
"protein_id": "ENSP00000456148.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 647,
"cds_start": 224,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"hgvs_c": "n.783C>T",
"hgvs_p": null,
"transcript": "ENST00000567478.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000567478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260592",
"gene_hgnc_id": 58394,
"hgvs_c": "n.568-3651G>A",
"hgvs_p": null,
"transcript": "ENST00000702436.2",
"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": "pseudogene",
"feature": "ENST00000702436.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000260592",
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"transcript": "ENST00000805113.1",
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"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": "pseudogene",
"feature": "ENST00000805113.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000260592",
"gene_hgnc_id": 58394,
"hgvs_c": "n.406-3651G>A",
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"transcript": "ENST00000805114.1",
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"transcript_support_level": null,
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"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": "ENST00000805114.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMC5-AS1",
"gene_hgnc_id": 58394,
"hgvs_c": "n.471-3651G>A",
"hgvs_p": null,
"transcript": "XR_007065016.1",
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"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": "pseudogene",
"feature": "XR_007065016.1"
}
],
"gene_symbol": "TMC5",
"gene_hgnc_id": 22999,
"dbsnp": "rs190728673",
"frequency_reference_population": 0.00008611343,
"hom_count_reference_population": 0,
"allele_count_reference_population": 139,
"gnomad_exomes_af": 0.0000855076,
"gnomad_genomes_af": 0.0000919287,
"gnomad_exomes_ac": 125,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3820619583129883,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.243,
"revel_prediction": "Benign",
"alphamissense_score": 0.1314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.848,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001105248.1",
"gene_symbol": "TMC5",
"hgnc_id": 22999,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Met"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000702436.2",
"gene_symbol": "ENSG00000260592",
"hgnc_id": 58394,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.568-3651G>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065016.1",
"gene_symbol": "TMC5-AS1",
"hgnc_id": 58394,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.471-3651G>A",
"hgvs_p": null
}
],
"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
}