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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: 1-110381059-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=110381059&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 110381059,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004696.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "NM_004696.3",
"protein_id": "NP_004687.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 487,
"cds_start": 449,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369779.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004696.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000369779.9",
"protein_id": "ENSP00000358794.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 487,
"cds_start": 449,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004696.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369779.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Ile102Thr",
"transcript": "ENST00000472422.6",
"protein_id": "ENSP00000432495.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 439,
"cds_start": 305,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472422.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000369781.8",
"protein_id": "ENSP00000358796.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 319,
"cds_start": 449,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369781.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "n.*142T>C",
"hgvs_p": null,
"transcript": "ENST00000461647.6",
"protein_id": "ENSP00000432190.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461647.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "n.*142T>C",
"hgvs_p": null,
"transcript": "ENST00000461647.6",
"protein_id": "ENSP00000432190.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461647.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000855892.1",
"protein_id": "ENSP00000525951.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 518,
"cds_start": 449,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855892.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000855890.1",
"protein_id": "ENSP00000525949.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 487,
"cds_start": 449,
"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": "ENST00000855890.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000962117.1",
"protein_id": "ENSP00000632176.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 486,
"cds_start": 449,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962117.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Ile102Thr",
"transcript": "NM_001201546.2",
"protein_id": "NP_001188475.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 439,
"cds_start": 305,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201546.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Ile88Thr",
"transcript": "NM_001201547.2",
"protein_id": "NP_001188476.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 425,
"cds_start": 263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201547.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Ile88Thr",
"transcript": "ENST00000541986.5",
"protein_id": "ENSP00000446087.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 425,
"cds_start": 263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541986.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Ile40Thr",
"transcript": "NM_001201548.2",
"protein_id": "NP_001188477.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 382,
"cds_start": 119,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201548.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Ile40Thr",
"transcript": "ENST00000437429.6",
"protein_id": "ENSP00000394790.2",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 382,
"cds_start": 119,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437429.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "NM_001201549.2",
"protein_id": "NP_001188478.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 319,
"cds_start": 449,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201549.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Ile102Thr",
"transcript": "ENST00000855891.1",
"protein_id": "ENSP00000525950.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 271,
"cds_start": 305,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855891.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Ile88Thr",
"transcript": "NM_001319220.2",
"protein_id": "NP_001306149.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 257,
"cds_start": 263,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319220.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "XM_005271317.6",
"protein_id": "XP_005271374.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 487,
"cds_start": 449,
"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_005271317.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.263T>C",
"hgvs_p": "p.Ile88Thr",
"transcript": "XM_047433967.1",
"protein_id": "XP_047289923.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 425,
"cds_start": 263,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433967.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Ile40Thr",
"transcript": "XM_006711033.4",
"protein_id": "XP_006711096.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 377,
"cds_start": 119,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711033.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "XM_047433980.1",
"protein_id": "XP_047289936.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 319,
"cds_start": 449,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433980.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Ile102Thr",
"transcript": "XM_047433986.1",
"protein_id": "XP_047289942.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 271,
"cds_start": 305,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047433986.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 8,
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"gene_symbol": "SLC16A4",
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},
{
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"protein_coding": true,
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],
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"gene_symbol": "SLC16A4",
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"transcript": "ENST00000962116.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "SLC16A4",
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"transcript": "ENST00000492412.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492412.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 7,
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"gene_symbol": "SLC16A4",
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},
{
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],
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},
{
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"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "SLC16A4",
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"feature": "ENST00000528649.5"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "SLC16A4",
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"hgvs_c": "n.278-1170T>C",
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"transcript": "ENST00000497687.1",
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"biotype": "pseudogene",
"feature": "ENST00000497687.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "LAMTOR5-AS1",
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"hgvs_c": "n.928+25028A>G",
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"biotype": "pseudogene",
"feature": "ENST00000626572.2"
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],
"gene_symbol": "SLC16A4",
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"dbsnp": "rs747367705",
"frequency_reference_population": 0.000032836855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.000032836,
"gnomad_genomes_af": 0.000032845,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.951910138130188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.536,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3028,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.643,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004696.3",
"gene_symbol": "SLC16A4",
"hgnc_id": 10925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000626572.2",
"gene_symbol": "LAMTOR5-AS1",
"hgnc_id": 40823,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.928+25028A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}