← Back to variant description
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: 5-88196381-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88196381&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88196381,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349407.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"transcript": "NM_153354.5",
"protein_id": "NP_699185.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 487,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": "ENST00000296595.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153354.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"transcript": "ENST00000296595.11",
"protein_id": "ENSP00000296595.6",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 487,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": "NM_153354.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296595.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*5571A>G",
"hgvs_p": null,
"transcript": "ENST00000510089.5",
"protein_id": "ENSP00000423380.1",
"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": 7608,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*1028A>G",
"hgvs_p": null,
"transcript": "ENST00000511087.5",
"protein_id": "ENSP00000421805.1",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*5571A>G",
"hgvs_p": null,
"transcript": "ENST00000510089.5",
"protein_id": "ENSP00000423380.1",
"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": 7608,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.*1028A>G",
"hgvs_p": null,
"transcript": "ENST00000511087.5",
"protein_id": "ENSP00000421805.1",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511087.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"transcript": "NM_001349407.2",
"protein_id": "NP_001336336.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 534,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349407.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"transcript": "NM_001289007.2",
"protein_id": "NP_001275936.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 502,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289007.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"transcript": "ENST00000514135.5",
"protein_id": "ENSP00000426354.1",
"transcript_support_level": 2,
"aa_start": 432,
"aa_end": null,
"aa_length": 502,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514135.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Met423Val",
"transcript": "ENST00000934279.1",
"protein_id": "ENSP00000604338.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 478,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934279.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Met421Val",
"transcript": "NM_001289008.2",
"protein_id": "NP_001275937.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 476,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289008.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Met421Val",
"transcript": "ENST00000512429.5",
"protein_id": "ENSP00000421498.1",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 476,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512429.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Met418Val",
"transcript": "ENST00000934280.1",
"protein_id": "ENSP00000604339.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934280.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Met250Val",
"transcript": "NM_001349400.2",
"protein_id": "NP_001336329.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 305,
"cds_start": 748,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349400.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Met250Val",
"transcript": "NM_001349402.2",
"protein_id": "NP_001336331.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 305,
"cds_start": 748,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349402.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Met250Val",
"transcript": "NM_001349403.2",
"protein_id": "NP_001336332.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 305,
"cds_start": 748,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349403.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Met250Val",
"transcript": "NM_001349405.2",
"protein_id": "NP_001336334.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 305,
"cds_start": 748,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349405.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Met223Val",
"transcript": "ENST00000511218.5",
"protein_id": "ENSP00000425991.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 278,
"cds_start": 667,
"cds_end": null,
"cds_length": 837,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511218.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1375A>G",
"hgvs_p": "p.Met459Val",
"transcript": "XM_024454373.2",
"protein_id": "XP_024310141.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 561,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 5789,
"cdna_end": null,
"cdna_length": 9953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454373.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Met421Val",
"transcript": "XM_024454375.2",
"protein_id": "XP_024310143.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 476,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454375.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Met421Val",
"transcript": "XM_047416808.1",
"protein_id": "XP_047272764.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 476,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 12770,
"cdna_end": null,
"cdna_length": 14104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416808.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "XM_047416809.1",
"protein_id": "XP_047272765.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 360,
"cds_start": 913,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416809.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "XM_047416810.1",
"protein_id": "XP_047272766.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 360,
"cds_start": 913,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 10225,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416810.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "XM_047416811.1",
"protein_id": "XP_047272767.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 360,
"cds_start": 913,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416811.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "XM_047416812.1",
"protein_id": "XP_047272768.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 360,
"cds_start": 913,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416812.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "XM_047416813.1",
"protein_id": "XP_047272769.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 360,
"cds_start": 913,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416813.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Met287Val",
"transcript": "XM_047416814.1",
"protein_id": "XP_047272770.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 342,
"cds_start": 859,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 8105,
"cdna_end": null,
"cdna_length": 9439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416814.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Met250Val",
"transcript": "XM_047416815.1",
"protein_id": "XP_047272771.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 305,
"cds_start": 748,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416815.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.651A>G",
"hgvs_p": "p.Lys217Lys",
"transcript": "ENST00000506536.5",
"protein_id": "ENSP00000421733.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 217,
"cds_start": 651,
"cds_end": null,
"cds_length": 654,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506536.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1278A>G",
"hgvs_p": "p.Lys426Lys",
"transcript": "XM_024454376.2",
"protein_id": "XP_024310144.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 426,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 5684,
"cdna_end": null,
"cdna_length": 7018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454376.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Lys399Lys",
"transcript": "XM_006714553.2",
"protein_id": "XP_006714616.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 399,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714553.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "c.1164A>G",
"hgvs_p": "p.Lys388Lys",
"transcript": "XM_024454378.2",
"protein_id": "XP_024310146.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 388,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454378.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.913A>G",
"hgvs_p": null,
"transcript": "ENST00000509387.6",
"protein_id": "ENSP00000424200.2",
"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": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509387.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.891A>G",
"hgvs_p": null,
"transcript": "ENST00000515293.1",
"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": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000515293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.1294A>G",
"hgvs_p": null,
"transcript": "ENST00000850886.1",
"protein_id": "ENSP00000520925.1",
"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": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000850886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"hgvs_c": "n.1516A>G",
"hgvs_p": null,
"transcript": "NR_110266.2",
"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": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110266.2"
}
],
"gene_symbol": "TMEM161B",
"gene_hgnc_id": 28483,
"dbsnp": "rs745933568",
"frequency_reference_population": 6.8430813e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84308e-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": 0.03470832109451294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.0899,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.617,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001349407.2",
"gene_symbol": "TMEM161B",
"hgnc_id": 28483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val"
}
],
"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
}