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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: 8-143315778-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143315778&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143315778,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000329245.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1502T>G",
"hgvs_p": "p.Leu501Arg",
"transcript": "NM_052963.3",
"protein_id": "NP_443195.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 601,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": "ENST00000329245.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1502T>G",
"hgvs_p": "p.Leu501Arg",
"transcript": "ENST00000329245.9",
"protein_id": "ENSP00000328835.3",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 601,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": "NM_052963.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "NM_001258446.1",
"protein_id": "NP_001245375.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 503,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "NM_001258447.1",
"protein_id": "NP_001245376.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 503,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "ENST00000519148.5",
"protein_id": "ENSP00000429169.1",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 503,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "ENST00000521193.5",
"protein_id": "ENSP00000428369.1",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 503,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "ENST00000523676.5",
"protein_id": "ENSP00000429181.1",
"transcript_support_level": 5,
"aa_start": 403,
"aa_end": null,
"aa_length": 503,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.29T>G",
"hgvs_p": "p.Leu10Arg",
"transcript": "ENST00000519977.5",
"protein_id": "ENSP00000427925.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 110,
"cds_start": 29,
"cds_end": null,
"cds_length": 333,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1622T>G",
"hgvs_p": "p.Leu541Arg",
"transcript": "XM_047421330.1",
"protein_id": "XP_047277286.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 722,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1538T>G",
"hgvs_p": "p.Leu513Arg",
"transcript": "XM_047421331.1",
"protein_id": "XP_047277287.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 694,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1502T>G",
"hgvs_p": "p.Leu501Arg",
"transcript": "XM_005250781.5",
"protein_id": "XP_005250838.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 682,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1385T>G",
"hgvs_p": "p.Leu462Arg",
"transcript": "XM_047421332.1",
"protein_id": "XP_047277288.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 643,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1622T>G",
"hgvs_p": "p.Leu541Arg",
"transcript": "XM_047421333.1",
"protein_id": "XP_047277289.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 641,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1538T>G",
"hgvs_p": "p.Leu513Arg",
"transcript": "XM_047421334.1",
"protein_id": "XP_047277290.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 613,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421335.1",
"protein_id": "XP_047277291.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421336.1",
"protein_id": "XP_047277292.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
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"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421338.1",
"protein_id": "XP_047277294.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421339.1",
"protein_id": "XP_047277295.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421340.1",
"protein_id": "XP_047277296.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
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"cdna_start": 1764,
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"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421341.1",
"protein_id": "XP_047277297.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
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"cdna_start": 1557,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421342.1",
"protein_id": "XP_047277298.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
"hgvs_p": "p.Leu403Arg",
"transcript": "XM_047421343.1",
"protein_id": "XP_047277299.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1208T>G",
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},
{
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},
{
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "TOP1MT",
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"transcript": "ENST00000518951.6",
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"cds_start": -4,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"dbsnp": "rs1390291631",
"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": 0.7643109560012817,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.314,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1837,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.779,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000329245.9",
"gene_symbol": "TOP1MT",
"hgnc_id": 29787,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1502T>G",
"hgvs_p": "p.Leu501Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}