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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: 1-23384417-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23384417&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23384417,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003196.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "NM_003196.3",
"protein_id": "NP_003187.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 348,
"cds_start": 967,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450454.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003196.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000450454.7",
"protein_id": "ENSP00000406293.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 348,
"cds_start": 967,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003196.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450454.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000476978.3",
"protein_id": "ENSP00000474530.3",
"transcript_support_level": 3,
"aa_start": 323,
"aa_end": null,
"aa_length": 351,
"cds_start": 967,
"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": "ENST00000476978.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Val413Met",
"transcript": "ENST00000898825.1",
"protein_id": "ENSP00000568884.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 438,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898825.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Val392Met",
"transcript": "ENST00000898823.1",
"protein_id": "ENSP00000568882.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 417,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898823.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000898818.1",
"protein_id": "ENSP00000568877.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 348,
"cds_start": 967,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898818.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000941055.1",
"protein_id": "ENSP00000611114.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 348,
"cds_start": 967,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941055.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000941056.1",
"protein_id": "ENSP00000611115.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 348,
"cds_start": 967,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941056.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Val322Met",
"transcript": "ENST00000941057.1",
"protein_id": "ENSP00000611116.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 347,
"cds_start": 964,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941057.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000941061.1",
"protein_id": "ENSP00000611120.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 347,
"cds_start": 967,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941061.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Met",
"transcript": "ENST00000898819.1",
"protein_id": "ENSP00000568878.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 327,
"cds_start": 904,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898819.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Met",
"transcript": "ENST00000898820.1",
"protein_id": "ENSP00000568879.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 327,
"cds_start": 904,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898820.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Met",
"transcript": "ENST00000898826.1",
"protein_id": "ENSP00000568885.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 318,
"cds_start": 877,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898826.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Val287Met",
"transcript": "ENST00000941060.1",
"protein_id": "ENSP00000611119.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 312,
"cds_start": 859,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941060.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Val281Met",
"transcript": "ENST00000941058.1",
"protein_id": "ENSP00000611117.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 306,
"cds_start": 841,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941058.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Val274Met",
"transcript": "ENST00000898824.1",
"protein_id": "ENSP00000568883.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 299,
"cds_start": 820,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898824.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Met",
"transcript": "ENST00000898821.1",
"protein_id": "ENSP00000568880.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 98,
"cds_start": 217,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898821.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "XM_017002200.3",
"protein_id": "XP_016857689.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 487,
"cds_start": 967,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002200.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Met",
"transcript": "XM_017002201.2",
"protein_id": "XP_016857690.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 466,
"cds_start": 904,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002201.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Met",
"transcript": "XM_017002202.3",
"protein_id": "XP_016857691.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 466,
"cds_start": 904,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002202.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Val286Met",
"transcript": "XM_017002203.2",
"protein_id": "XP_016857692.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 450,
"cds_start": 856,
"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": "XM_017002203.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
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"hgvs_p": "p.Val323Met",
"transcript": "XM_011542053.4",
"protein_id": "XP_011540355.1",
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"aa_start": 323,
"aa_end": null,
"aa_length": 364,
"cds_start": 967,
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"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542053.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "XM_006710864.3",
"protein_id": "XP_006710927.1",
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"aa_start": 323,
"aa_end": null,
"aa_length": 351,
"cds_start": 967,
"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": "XM_006710864.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.967-6G>A",
"hgvs_p": null,
"transcript": "ENST00000941059.1",
"protein_id": "ENSP00000611118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"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": "ENST00000941059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.966+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000898822.1",
"protein_id": "ENSP00000568881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898822.1"
}
],
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"dbsnp": "rs1447313102",
"frequency_reference_population": 0.000011164009,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116428,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44754254817962646,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.41200000047683716,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.7715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.174,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.531608631395558,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003196.3",
"gene_symbol": "TCEA3",
"hgnc_id": 11615,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met"
}
],
"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
}