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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: 1-110375464-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=110375464&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 110375464,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004696.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Ile444Val",
"transcript": "NM_004696.3",
"protein_id": "NP_004687.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 487,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": "ENST00000369779.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004696.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Ile444Val",
"transcript": "ENST00000369779.9",
"protein_id": "ENSP00000358794.4",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 487,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": "NM_004696.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369779.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "ENST00000472422.6",
"protein_id": "ENSP00000432495.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 439,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472422.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Ile276Val",
"transcript": "ENST00000369781.8",
"protein_id": "ENSP00000358796.4",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 319,
"cds_start": 826,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2082,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "n.*519A>G",
"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": 1962,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "n.*519A>G",
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461647.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "ENST00000855892.1",
"protein_id": "ENSP00000525951.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 518,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855892.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Ile444Val",
"transcript": "ENST00000855890.1",
"protein_id": "ENSP00000525949.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 487,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855890.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Ile443Val",
"transcript": "ENST00000962117.1",
"protein_id": "ENSP00000632176.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 486,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962117.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "NM_001201546.2",
"protein_id": "NP_001188475.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 439,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201546.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Ile390Val",
"transcript": "ENST00000962116.1",
"protein_id": "ENSP00000632175.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 433,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962116.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Ile382Val",
"transcript": "NM_001201547.2",
"protein_id": "NP_001188476.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 425,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201547.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Ile382Val",
"transcript": "ENST00000541986.5",
"protein_id": "ENSP00000446087.1",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 425,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541986.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "NM_001201548.2",
"protein_id": "NP_001188477.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 382,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201548.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "ENST00000437429.6",
"protein_id": "ENSP00000394790.2",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 382,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437429.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Ile276Val",
"transcript": "NM_001201549.2",
"protein_id": "NP_001188478.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 319,
"cds_start": 826,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201549.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.682A>G",
"hgvs_p": "p.Ile228Val",
"transcript": "ENST00000855891.1",
"protein_id": "ENSP00000525950.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 271,
"cds_start": 682,
"cds_end": null,
"cds_length": 816,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855891.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "NM_001319220.2",
"protein_id": "NP_001306149.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 257,
"cds_start": 640,
"cds_end": null,
"cds_length": 774,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319220.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Ile211Val",
"transcript": "ENST00000467986.2",
"protein_id": "ENSP00000435768.1",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 219,
"cds_start": 631,
"cds_end": null,
"cds_length": 660,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467986.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Ile444Val",
"transcript": "XM_005271317.6",
"protein_id": "XP_005271374.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 487,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271317.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Ile382Val",
"transcript": "XM_047433967.1",
"protein_id": "XP_047289923.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 425,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433967.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A4",
"gene_hgnc_id": 10925,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "XM_006711033.4",
"protein_id": "XP_006711096.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 377,
"cds_start": 1000,
"cds_end": null,
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{
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{
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{
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{
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],
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{
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{
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},
{
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},
{
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],
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"gene_symbol": "LAMTOR5-AS1",
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"biotype": "pseudogene",
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],
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"dbsnp": "rs138557128",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1382504105567932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.0664,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.015,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004696.3",
"gene_symbol": "SLC16A4",
"hgnc_id": 10925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Ile444Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000626572.2",
"gene_symbol": "LAMTOR5-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.928+19433T>C",
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}
],
"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
}