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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: 10-812990-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=812990&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 812990,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015155.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu",
"transcript": "NM_015155.3",
"protein_id": "NP_055970.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 738,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "ENST00000316157.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu",
"transcript": "ENST00000316157.8",
"protein_id": "ENSP00000326128.3",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 738,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "NM_015155.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.3664C>T",
"hgvs_p": null,
"transcript": "ENST00000609318.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.5144C>T",
"hgvs_p": "p.Ser1715Leu",
"transcript": "ENST00000689323.1",
"protein_id": "ENSP00000510165.1",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1735,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5208,
"cdna_start": 5205,
"cdna_end": null,
"cdna_length": 8646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ser753Leu",
"transcript": "NM_001351277.2",
"protein_id": "NP_001338206.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 773,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Ser669Leu",
"transcript": "ENST00000688365.1",
"protein_id": "ENSP00000509705.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 689,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ser318Leu",
"transcript": "ENST00000448368.5",
"protein_id": "ENSP00000394545.1",
"transcript_support_level": 4,
"aa_start": 318,
"aa_end": null,
"aa_length": 338,
"cds_start": 953,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3758C>T",
"hgvs_p": "p.Ser1253Leu",
"transcript": "XM_017015987.2",
"protein_id": "XP_016871476.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3758,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 9900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3653C>T",
"hgvs_p": "p.Ser1218Leu",
"transcript": "XM_017015988.2",
"protein_id": "XP_016871477.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3719,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ser753Leu",
"transcript": "XM_017015990.2",
"protein_id": "XP_016871479.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 773,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 11777,
"cdna_end": null,
"cdna_length": 17853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ser753Leu",
"transcript": "XM_047424892.1",
"protein_id": "XP_047280848.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 773,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 19283,
"cdna_end": null,
"cdna_length": 25359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ser753Leu",
"transcript": "XM_047424893.1",
"protein_id": "XP_047280849.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 773,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 5512,
"cdna_end": null,
"cdna_length": 11588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ser753Leu",
"transcript": "XM_047424894.1",
"protein_id": "XP_047280850.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 773,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 8822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ser753Leu",
"transcript": "XM_047424895.1",
"protein_id": "XP_047280851.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 773,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 3166,
"cdna_end": null,
"cdna_length": 9242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu",
"transcript": "XM_047424896.1",
"protein_id": "XP_047280852.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 738,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 19178,
"cdna_end": null,
"cdna_length": 25254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu",
"transcript": "XM_047424897.1",
"protein_id": "XP_047280853.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 738,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 8717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1787C>T",
"hgvs_p": "p.Ser596Leu",
"transcript": "XM_017015992.2",
"protein_id": "XP_016871481.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 616,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 7966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Ser561Leu",
"transcript": "XM_047424902.1",
"protein_id": "XP_047280858.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 581,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.2441C>T",
"hgvs_p": null,
"transcript": "ENST00000688042.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.*1525C>T",
"hgvs_p": null,
"transcript": "ENST00000690516.1",
"protein_id": "ENSP00000508832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*177C>T",
"hgvs_p": null,
"transcript": "ENST00000690211.1",
"protein_id": "ENSP00000509846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.*1525C>T",
"hgvs_p": null,
"transcript": "ENST00000690516.1",
"protein_id": "ENSP00000508832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*177C>T",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"exon_count": 18,
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},
{
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],
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},
{
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],
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"transcript": "XM_047424901.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "LARP4B",
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"hgvs_c": "c.447+1752C>T",
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"transcript": "ENST00000614908.5",
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"feature": null
}
],
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"dbsnp": "rs373554864",
"frequency_reference_population": 0.00007755897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 123,
"gnomad_exomes_af": 0.0000767247,
"gnomad_genomes_af": 0.0000854184,
"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33782440423965454,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.0884,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.061,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015155.3",
"gene_symbol": "LARP4B",
"hgnc_id": 28987,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu"
}
],
"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
}