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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: 11-132330155-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=132330155&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 132330155,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001352001.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"transcript": "NM_001352005.2",
"protein_id": "NP_001338934.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683400.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352005.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"transcript": "ENST00000683400.1",
"protein_id": "ENSP00000507313.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352005.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683400.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"transcript": "ENST00000425719.6",
"protein_id": "ENSP00000396722.2",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425719.6"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.935-4891G>A",
"hgvs_p": null,
"transcript": "ENST00000374786.5",
"protein_id": "ENSP00000363918.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374786.5"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.935-4891G>A",
"hgvs_p": null,
"transcript": "ENST00000374791.7",
"protein_id": "ENSP00000363923.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374791.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"transcript": "NM_001352001.2",
"protein_id": "NP_001338930.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 367,
"cds_start": 973,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352001.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"transcript": "NM_001352002.2",
"protein_id": "NP_001338931.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 367,
"cds_start": 973,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352002.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Val313Met",
"transcript": "NM_001144058.2",
"protein_id": "NP_001137530.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 355,
"cds_start": 937,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144058.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Val304Met",
"transcript": "NM_001352006.2",
"protein_id": "NP_001338935.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 346,
"cds_start": 910,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352006.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Met",
"transcript": "NM_001386968.1",
"protein_id": "NP_001373897.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 326,
"cds_start": 850,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386968.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "ENST00000427481.6",
"protein_id": "ENSP00000416320.3",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 179,
"cds_start": 409,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427481.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met",
"transcript": "ENST00000457381.1",
"protein_id": "ENSP00000387984.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 118,
"cds_start": 226,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457381.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.971-4891G>A",
"hgvs_p": null,
"transcript": "NM_001352003.2",
"protein_id": "NP_001338932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352003.2"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.971-4891G>A",
"hgvs_p": null,
"transcript": "NM_001352004.2",
"protein_id": "NP_001338933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352004.2"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.935-4891G>A",
"hgvs_p": null,
"transcript": "NM_001048209.2",
"protein_id": "NP_001041674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048209.2"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.935-4891G>A",
"hgvs_p": null,
"transcript": "NM_016522.3",
"protein_id": "NP_057606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016522.3"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.920-4891G>A",
"hgvs_p": null,
"transcript": "NM_001386967.1",
"protein_id": "NP_001373896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386967.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.908-4891G>A",
"hgvs_p": null,
"transcript": "NM_001352007.2",
"protein_id": "NP_001338936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"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": "NM_001352007.2"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.893-4891G>A",
"hgvs_p": null,
"transcript": "NM_001386964.1",
"protein_id": "NP_001373893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386964.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.878-4891G>A",
"hgvs_p": null,
"transcript": "NM_001352008.2",
"protein_id": "NP_001338937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352008.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.830-4891G>A",
"hgvs_p": null,
"transcript": "NM_001386965.1",
"protein_id": "NP_001373894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386965.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.812-4891G>A",
"hgvs_p": null,
"transcript": "NM_001352009.2",
"protein_id": "NP_001338938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"feature": "NR_170359.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "NTM",
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"feature": "NR_170360.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 7,
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"gene_symbol": "NTM",
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{
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "NTM",
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"hgvs_c": "n.619-4891G>A",
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"biotype": "pseudogene",
"feature": "NR_170363.1"
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{
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"strand": true,
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "NTM",
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"hgvs_c": "n.619-4897G>A",
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"transcript": "NR_170364.1",
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"biotype": "pseudogene",
"feature": "NR_170364.1"
}
],
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"dbsnp": "rs201653643",
"frequency_reference_population": 0.0022427219,
"hom_count_reference_population": 12,
"allele_count_reference_population": 3480,
"gnomad_exomes_af": 0.00230035,
"gnomad_genomes_af": 0.00171332,
"gnomad_exomes_ac": 3219,
"gnomad_genomes_ac": 261,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009192794561386108,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.2494,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.967,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001352001.2",
"gene_symbol": "NTM",
"hgnc_id": 17941,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met"
}
],
"clinvar_disease": "Connective tissue disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Connective tissue disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}