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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: 16-189271-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=189271&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 189271,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_201412.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.1043A>C",
"hgvs_p": "p.Asp348Ala",
"transcript": "NM_201412.3",
"protein_id": "NP_958815.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 371,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": "ENST00000293872.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201412.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.1043A>C",
"hgvs_p": "p.Asp348Ala",
"transcript": "ENST00000293872.13",
"protein_id": "ENSP00000293872.8",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 371,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": "NM_201412.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293872.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.*693A>C",
"hgvs_p": null,
"transcript": "ENST00000337351.8",
"protein_id": "ENSP00000337507.4",
"transcript_support_level": 1,
"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": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337351.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*2206A>C",
"hgvs_p": null,
"transcript": "ENST00000426094.5",
"protein_id": "ENSP00000390953.1",
"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": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.2362A>C",
"hgvs_p": null,
"transcript": "ENST00000490762.5",
"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": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490762.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*2206A>C",
"hgvs_p": null,
"transcript": "ENST00000426094.5",
"protein_id": "ENSP00000390953.1",
"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": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.1013A>C",
"hgvs_p": "p.Asp338Ala",
"transcript": "ENST00000862883.1",
"protein_id": "ENSP00000532942.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 361,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862883.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944A>C",
"hgvs_p": "p.Asp315Ala",
"transcript": "ENST00000862884.1",
"protein_id": "ENSP00000532943.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 338,
"cds_start": 944,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862884.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.932A>C",
"hgvs_p": "p.Asp311Ala",
"transcript": "ENST00000920890.1",
"protein_id": "ENSP00000590949.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 334,
"cds_start": 932,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920890.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.914A>C",
"hgvs_p": "p.Asp305Ala",
"transcript": "ENST00000920887.1",
"protein_id": "ENSP00000590946.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 328,
"cds_start": 914,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920887.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.899A>C",
"hgvs_p": "p.Asp300Ala",
"transcript": "ENST00000920888.1",
"protein_id": "ENSP00000590947.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 323,
"cds_start": 899,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920888.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.875A>C",
"hgvs_p": "p.Asp292Ala",
"transcript": "ENST00000920889.1",
"protein_id": "ENSP00000590948.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920889.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.845A>C",
"hgvs_p": "p.Asp282Ala",
"transcript": "ENST00000949702.1",
"protein_id": "ENSP00000619761.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 305,
"cds_start": 845,
"cds_end": null,
"cds_length": 918,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949702.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.776A>C",
"hgvs_p": "p.Asp259Ala",
"transcript": "ENST00000949701.1",
"protein_id": "ENSP00000619760.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 282,
"cds_start": 776,
"cds_end": null,
"cds_length": 849,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949701.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.Asp204Ala",
"transcript": "ENST00000920891.1",
"protein_id": "ENSP00000590950.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 227,
"cds_start": 611,
"cds_end": null,
"cds_length": 684,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920891.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Asp147Ala",
"transcript": "ENST00000429378.5",
"protein_id": "ENSP00000413033.1",
"transcript_support_level": 3,
"aa_start": 147,
"aa_end": null,
"aa_length": 170,
"cds_start": 440,
"cds_end": null,
"cds_length": 513,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429378.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944A>C",
"hgvs_p": "p.Asp315Ala",
"transcript": "XM_011522561.3",
"protein_id": "XP_011520863.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 338,
"cds_start": 944,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522561.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.884A>C",
"hgvs_p": "p.Asp295Ala",
"transcript": "XM_005255427.4",
"protein_id": "XP_005255484.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 318,
"cds_start": 884,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255427.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.785A>C",
"hgvs_p": "p.Asp262Ala",
"transcript": "XM_017023438.3",
"protein_id": "XP_016878927.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 285,
"cds_start": 785,
"cds_end": null,
"cds_length": 858,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023438.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.*102A>C",
"hgvs_p": null,
"transcript": "NM_001320226.2",
"protein_id": "NP_001307155.1",
"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": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320226.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.*693A>C",
"hgvs_p": null,
"transcript": "NM_018032.5",
"protein_id": "NP_060502.1",
"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": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018032.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.*102A>C",
"hgvs_p": null,
"transcript": "ENST00000397783.5",
"protein_id": "ENSP00000380885.1",
"transcript_support_level": 2,
"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": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397783.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
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"hgvs_c": "c.*102A>C",
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"transcript": "NM_001330420.2",
"protein_id": "NP_001317349.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
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"cdna_length": 2537,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001330420.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
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"hgvs_c": "c.*86A>C",
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"transcript": "ENST00000442701.1",
"protein_id": "ENSP00000407781.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442701.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.*945A>C",
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"transcript": "ENST00000629543.2",
"protein_id": "ENSP00000485761.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629543.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.1961A>C",
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"transcript": "ENST00000464711.5",
"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": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464711.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.292A>C",
"hgvs_p": null,
"transcript": "ENST00000468732.5",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468732.5"
}
],
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"dbsnp": "rs755192001",
"frequency_reference_population": 0.000034081895,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.000034892,
"gnomad_genomes_af": 0.0000262975,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15749523043632507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.68,
"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": 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_201412.3",
"gene_symbol": "LUC7L",
"hgnc_id": 6723,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1043A>C",
"hgvs_p": "p.Asp348Ala"
}
],
"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
}