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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: 14-57581401-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57581401&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 57581401,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001306087.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.620T>G",
"hgvs_p": "p.Leu207Arg",
"transcript": "NM_001306087.2",
"protein_id": "NP_001293016.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 485,
"cds_start": 620,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000556826.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306087.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.620T>G",
"hgvs_p": "p.Leu207Arg",
"transcript": "ENST00000556826.6",
"protein_id": "ENSP00000452086.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 485,
"cds_start": 620,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001306087.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556826.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.251T>G",
"hgvs_p": "p.Leu84Arg",
"transcript": "ENST00000554729.5",
"protein_id": "ENSP00000451990.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 362,
"cds_start": 251,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554729.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.251T>G",
"hgvs_p": null,
"transcript": "ENST00000557254.5",
"protein_id": "ENSP00000450836.1",
"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": "ENST00000557254.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg",
"transcript": "ENST00000339762.10",
"protein_id": "ENSP00000342518.6",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 521,
"cds_start": 728,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339762.10"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.617T>G",
"hgvs_p": "p.Leu206Arg",
"transcript": "NM_001206920.2",
"protein_id": "NP_001193849.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 484,
"cds_start": 617,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206920.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.611T>G",
"hgvs_p": "p.Leu204Arg",
"transcript": "NM_001352015.3",
"protein_id": "NP_001338944.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 482,
"cds_start": 611,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352015.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"transcript": "NM_001352012.2",
"protein_id": "NP_001338941.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 463,
"cds_start": 554,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352012.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.251T>G",
"hgvs_p": "p.Leu84Arg",
"transcript": "NM_001352014.2",
"protein_id": "NP_001338943.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 362,
"cds_start": 251,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352014.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.620T>G",
"hgvs_p": "p.Leu207Arg",
"transcript": "NM_001352011.2",
"protein_id": "NP_001338940.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 324,
"cds_start": 620,
"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": "NM_001352011.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.611T>G",
"hgvs_p": "p.Leu204Arg",
"transcript": "NM_001352016.2",
"protein_id": "NP_001338945.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 314,
"cds_start": 611,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352016.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.761T>G",
"hgvs_p": "p.Leu254Arg",
"transcript": "XM_011536720.4",
"protein_id": "XP_011535022.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 532,
"cds_start": 761,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536720.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.758T>G",
"hgvs_p": "p.Leu253Arg",
"transcript": "XM_011536721.4",
"protein_id": "XP_011535023.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 531,
"cds_start": 758,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536721.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.581T>G",
"hgvs_p": "p.Leu194Arg",
"transcript": "XM_011536723.4",
"protein_id": "XP_011535025.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 472,
"cds_start": 581,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536723.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.566T>G",
"hgvs_p": "p.Leu189Arg",
"transcript": "XM_011536724.4",
"protein_id": "XP_011535026.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 467,
"cds_start": 566,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536724.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.-402T>G",
"hgvs_p": null,
"transcript": "NM_001352013.2",
"protein_id": "NP_001338942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352013.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.-151T>G",
"hgvs_p": null,
"transcript": "XM_047431343.1",
"protein_id": "XP_047287299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SLC35F4-AS1",
"gene_hgnc_id": 58292,
"hgvs_c": "n.840A>C",
"hgvs_p": null,
"transcript": "ENST00000655475.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000655475.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.1178T>G",
"hgvs_p": null,
"transcript": "NR_159373.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159373.2"
},
{
"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": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.746T>G",
"hgvs_p": null,
"transcript": "NR_159374.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159374.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.746T>G",
"hgvs_p": null,
"transcript": "NR_159375.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159375.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.743T>G",
"hgvs_p": null,
"transcript": "NR_159376.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159376.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"consequences": [
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"biotype": "pseudogene",
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},
{
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"consequences": [
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],
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"biotype": "pseudogene",
"feature": "XR_007064010.1"
},
{
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],
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"exon_count": 2,
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"biotype": "pseudogene",
"feature": "XR_007064193.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 9,
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"gene_symbol": "SLC35F4",
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"hgvs_c": "n.1672T>G",
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"feature": "XR_943418.4"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 3,
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"feature": "ENST00000647916.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"gene_symbol": "SLC35F4",
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"transcript": "XM_024449561.2",
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"biotype": "protein_coding",
"feature": "XM_024449561.2"
},
{
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "SLC35F4",
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"hgvs_c": "n.-68T>G",
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"transcript": "ENST00000556306.1",
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"aa_end": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556306.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SLC35F4-AS1",
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"hgvs_c": "n.*81A>C",
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"transcript": "ENST00000555600.1",
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"transcript_support_level": 3,
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"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": "pseudogene",
"feature": "ENST00000555600.1"
}
],
"gene_symbol": "SLC35F4",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.855109691619873,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.46,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.252,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001306087.2",
"gene_symbol": "SLC35F4",
"hgnc_id": 19845,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.620T>G",
"hgvs_p": "p.Leu207Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000655475.1",
"gene_symbol": "SLC35F4-AS1",
"hgnc_id": 58292,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.840A>C",
"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
}