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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: 17-79940933-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79940933&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79940933,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019020.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Pro744Thr",
"transcript": "NM_019020.4",
"protein_id": "NP_061893.2",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 767,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310924.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019020.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Pro744Thr",
"transcript": "ENST00000310924.7",
"protein_id": "ENSP00000309794.2",
"transcript_support_level": 1,
"aa_start": 744,
"aa_end": null,
"aa_length": 767,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019020.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310924.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1144C>A",
"hgvs_p": "p.Pro382Thr",
"transcript": "ENST00000340848.11",
"protein_id": "ENSP00000341517.7",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 405,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340848.11"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1105C>A",
"hgvs_p": "p.Pro369Thr",
"transcript": "ENST00000576768.5",
"protein_id": "ENSP00000461522.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 392,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576768.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000926258.1",
"protein_id": "ENSP00000596317.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 837,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926258.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2437C>A",
"hgvs_p": "p.Pro813Thr",
"transcript": "ENST00000926255.1",
"protein_id": "ENSP00000596314.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 836,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926255.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2401C>A",
"hgvs_p": "p.Pro801Thr",
"transcript": "ENST00000926253.1",
"protein_id": "ENSP00000596312.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 824,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926253.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2398C>A",
"hgvs_p": "p.Pro800Thr",
"transcript": "ENST00000968563.1",
"protein_id": "ENSP00000638622.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 823,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968563.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2356C>A",
"hgvs_p": "p.Pro786Thr",
"transcript": "ENST00000926262.1",
"protein_id": "ENSP00000596321.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 809,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926262.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Pro744Thr",
"transcript": "ENST00000910406.1",
"protein_id": "ENSP00000580465.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 767,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910406.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Pro744Thr",
"transcript": "ENST00000926254.1",
"protein_id": "ENSP00000596313.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 767,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926254.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2227C>A",
"hgvs_p": "p.Pro743Thr",
"transcript": "ENST00000910405.1",
"protein_id": "ENSP00000580464.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 766,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910405.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2227C>A",
"hgvs_p": "p.Pro743Thr",
"transcript": "ENST00000910407.1",
"protein_id": "ENSP00000580466.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 766,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910407.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2227C>A",
"hgvs_p": "p.Pro743Thr",
"transcript": "ENST00000926257.1",
"protein_id": "ENSP00000596316.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 766,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926257.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2188C>A",
"hgvs_p": "p.Pro730Thr",
"transcript": "ENST00000926252.1",
"protein_id": "ENSP00000596311.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 753,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926252.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2188C>A",
"hgvs_p": "p.Pro730Thr",
"transcript": "ENST00000926260.1",
"protein_id": "ENSP00000596319.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 753,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926260.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2188C>A",
"hgvs_p": "p.Pro730Thr",
"transcript": "ENST00000926261.1",
"protein_id": "ENSP00000596320.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 753,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926261.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2185C>A",
"hgvs_p": "p.Pro729Thr",
"transcript": "ENST00000910404.1",
"protein_id": "ENSP00000580463.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 752,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910404.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2182C>A",
"hgvs_p": "p.Pro728Thr",
"transcript": "ENST00000926256.1",
"protein_id": "ENSP00000596315.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 751,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926256.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2050C>A",
"hgvs_p": "p.Pro684Thr",
"transcript": "ENST00000926259.1",
"protein_id": "ENSP00000596318.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 707,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926259.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2047C>A",
"hgvs_p": "p.Pro683Thr",
"transcript": "ENST00000926263.1",
"protein_id": "ENSP00000596322.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 706,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926263.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2047C>A",
"hgvs_p": "p.Pro683Thr",
"transcript": "ENST00000926264.1",
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{
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],
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"biotype": "protein_coding",
"feature": "XM_047435358.1"
},
{
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],
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"biotype": "protein_coding",
"feature": "XM_047435359.1"
},
{
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],
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"gene_symbol": "TBC1D16",
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"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Pro430Thr",
"transcript": "XM_024450582.2",
"protein_id": "XP_024306350.1",
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"aa_start": 430,
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"cds_start": 1288,
"cds_end": null,
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"biotype": "protein_coding",
"feature": "XM_024450582.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "LINC01978",
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"hgvs_c": "n.369+472G>T",
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"transcript": "ENST00000771062.1",
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"aa_end": null,
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"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": "ENST00000771062.1"
}
],
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"dbsnp": "rs1299451909",
"frequency_reference_population": 6.9297573e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.92976e-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": 0.15358105301856995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.145,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019020.4",
"gene_symbol": "TBC1D16",
"hgnc_id": 28356,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Pro744Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000771062.1",
"gene_symbol": "LINC01978",
"hgnc_id": 52806,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.369+472G>T",
"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
}