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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: 17-35809574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35809574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35809574,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_139215.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "NM_139215.3",
"protein_id": "NP_631961.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 592,
"cds_start": 5,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": "ENST00000605844.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139215.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000605844.6",
"protein_id": "ENSP00000474096.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 592,
"cds_start": 5,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": "NM_139215.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605844.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000604841.5",
"protein_id": "ENSP00000474609.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 589,
"cds_start": 5,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604841.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000603393.6",
"protein_id": "ENSP00000474653.2",
"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": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603393.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000947553.1",
"protein_id": "ENSP00000617612.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 633,
"cds_start": 5,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947553.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000852326.1",
"protein_id": "ENSP00000522385.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 590,
"cds_start": 5,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852326.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "NM_003487.4",
"protein_id": "NP_003478.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 589,
"cds_start": 5,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003487.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000852324.1",
"protein_id": "ENSP00000522383.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 575,
"cds_start": 5,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852324.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000852325.1",
"protein_id": "ENSP00000522384.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 574,
"cds_start": 5,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852325.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000852321.1",
"protein_id": "ENSP00000522380.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 559,
"cds_start": 5,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852321.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000919938.1",
"protein_id": "ENSP00000589997.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 556,
"cds_start": 5,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919938.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000852323.1",
"protein_id": "ENSP00000522382.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 530,
"cds_start": 5,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852323.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000919939.1",
"protein_id": "ENSP00000589998.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 425,
"cds_start": 5,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919939.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000919937.1",
"protein_id": "ENSP00000589996.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 381,
"cds_start": 5,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919937.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu",
"transcript": "ENST00000852322.1",
"protein_id": "ENSP00000522381.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 380,
"cds_start": 5,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000603427.6",
"protein_id": "ENSP00000474436.2",
"transcript_support_level": 4,
"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": 818,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603427.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000603777.6",
"protein_id": "ENSP00000474522.2",
"transcript_support_level": 5,
"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": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603777.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000604360.6",
"protein_id": "ENSP00000510013.1",
"transcript_support_level": 3,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604360.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.93C>T",
"hgvs_p": null,
"transcript": "ENST00000604434.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000604434.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000604694.2",
"protein_id": "ENSP00000475147.2",
"transcript_support_level": 5,
"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": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000604879.6",
"protein_id": "ENSP00000475044.2",
"transcript_support_level": 5,
"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": 641,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604879.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "TAF15",
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"hgvs_c": "n.69C>T",
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"transcript": "ENST00000605197.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000605197.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.91C>T",
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"transcript": "ENST00000605649.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000605649.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
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"hgvs_c": "n.91C>T",
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"transcript": "ENST00000685897.1",
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"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": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000685897.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"hgvs_c": "n.91C>T",
"hgvs_p": null,
"transcript": "ENST00000689923.1",
"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": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689923.1"
}
],
"gene_symbol": "TAF15",
"gene_hgnc_id": 11547,
"dbsnp": "rs1299588637",
"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": 0.42629408836364746,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8059999942779541,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.980386816352009,
"dbscsnv_ada_prediction": "Pathogenic",
"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": "NM_139215.3",
"gene_symbol": "TAF15",
"hgnc_id": 11547,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ser2Leu"
}
],
"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
}