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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: 11-129910559-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=129910559&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 129910559,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020228.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3080T>C",
"hgvs_p": "p.Leu1027Pro",
"transcript": "NM_199437.2",
"protein_id": "NP_955469.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360871.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199437.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3080T>C",
"hgvs_p": "p.Leu1027Pro",
"transcript": "ENST00000360871.8",
"protein_id": "ENSP00000354118.3",
"transcript_support_level": 1,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199437.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360871.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"transcript": "ENST00000358825.9",
"protein_id": "ENSP00000351686.5",
"transcript_support_level": 1,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358825.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2834T>C",
"hgvs_p": "p.Leu945Pro",
"transcript": "ENST00000526082.5",
"protein_id": "ENSP00000432237.1",
"transcript_support_level": 1,
"aa_start": 945,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526082.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Leu932Pro",
"transcript": "ENST00000423662.6",
"protein_id": "ENSP00000398431.2",
"transcript_support_level": 1,
"aa_start": 932,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423662.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2681T>C",
"hgvs_p": "p.Leu894Pro",
"transcript": "ENST00000304538.10",
"protein_id": "ENSP00000302669.6",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2681,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304538.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"transcript": "NM_020228.3",
"protein_id": "NP_064613.2",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020228.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3053T>C",
"hgvs_p": "p.Leu1018Pro",
"transcript": "NM_001367893.1",
"protein_id": "NP_001354822.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367893.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3041T>C",
"hgvs_p": "p.Leu1014Pro",
"transcript": "ENST00000887352.1",
"protein_id": "ENSP00000557411.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3041,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887352.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3026T>C",
"hgvs_p": "p.Leu1009Pro",
"transcript": "NM_001367892.1",
"protein_id": "NP_001354821.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367892.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3020T>C",
"hgvs_p": "p.Leu1007Pro",
"transcript": "NM_001367891.1",
"protein_id": "NP_001354820.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367891.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "ENST00000528746.5",
"protein_id": "ENSP00000431262.1",
"transcript_support_level": 5,
"aa_start": 988,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528746.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2951T>C",
"hgvs_p": "p.Leu984Pro",
"transcript": "ENST00000960421.1",
"protein_id": "ENSP00000630480.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960421.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2939T>C",
"hgvs_p": "p.Leu980Pro",
"transcript": "ENST00000935517.1",
"protein_id": "ENSP00000605576.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935517.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2834T>C",
"hgvs_p": "p.Leu945Pro",
"transcript": "NM_001367899.1",
"protein_id": "NP_001354828.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367899.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2822T>C",
"hgvs_p": "p.Leu941Pro",
"transcript": "NM_001367898.1",
"protein_id": "NP_001354827.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367898.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Leu932Pro",
"transcript": "NM_199438.2",
"protein_id": "NP_955470.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199438.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2732T>C",
"hgvs_p": "p.Leu911Pro",
"transcript": "NM_001367890.1",
"protein_id": "NP_001354819.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367890.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2693T>C",
"hgvs_p": "p.Leu898Pro",
"transcript": "NM_001367894.1",
"protein_id": "NP_001354823.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367894.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2681T>C",
"hgvs_p": "p.Leu894Pro",
"transcript": "NM_199439.2",
"protein_id": "NP_955471.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2681,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199439.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2243T>C",
"hgvs_p": "p.Leu748Pro",
"transcript": "NM_001367897.1",
"protein_id": "NP_001354826.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 877,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367897.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2231T>C",
"hgvs_p": "p.Leu744Pro",
"transcript": "NM_001367896.1",
"protein_id": "NP_001354825.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 873,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2622,
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},
{
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],
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},
{
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],
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"gene_symbol": "PRDM10",
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"feature": "XM_011542912.3"
},
{
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],
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"gene_symbol": "PRDM10",
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"protein_id": "XP_047283267.1",
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"biotype": "protein_coding",
"feature": "XM_047427311.1"
},
{
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"consequences": [
"missense_variant"
],
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"gene_symbol": "PRDM10",
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"hgvs_c": "c.2939T>C",
"hgvs_p": "p.Leu980Pro",
"transcript": "XM_047427312.1",
"protein_id": "XP_047283268.1",
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"cds_start": 2939,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047427312.1"
}
],
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"dbsnp": "rs1309569109",
"frequency_reference_population": 6.843278e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84328e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2705032229423523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.1112,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.322,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020228.3",
"gene_symbol": "PRDM10",
"hgnc_id": 13995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro"
}
],
"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
}