← Back to variant description
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: 11-61008714-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61008714&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61008714,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000313421.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "NM_006725.5",
"protein_id": "NP_006716.3",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 668,
"cds_start": 650,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": "ENST00000313421.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "ENST00000313421.11",
"protein_id": "ENSP00000323280.7",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 668,
"cds_start": 650,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": "NM_006725.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "ENST00000352009.9",
"protein_id": "ENSP00000340628.5",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 601,
"cds_start": 650,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "ENST00000452451.6",
"protein_id": "ENSP00000390676.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 592,
"cds_start": 650,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "ENST00000542157.5",
"protein_id": "ENSP00000440055.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 277,
"cds_start": 650,
"cds_end": null,
"cds_length": 835,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "NM_001254750.2",
"protein_id": "NP_001241679.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 601,
"cds_start": 650,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "NM_001254751.2",
"protein_id": "NP_001241680.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 592,
"cds_start": 650,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "ENST00000433107.6",
"protein_id": "ENSP00000410638.2",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 421,
"cds_start": 650,
"cds_end": null,
"cds_length": 1268,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.179C>G",
"hgvs_p": "p.Thr60Arg",
"transcript": "ENST00000538611.1",
"protein_id": "ENSP00000443747.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 183,
"cds_start": 179,
"cds_end": null,
"cds_length": 554,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_011545360.3",
"protein_id": "XP_011543662.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 667,
"cds_start": 650,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_006718738.3",
"protein_id": "XP_006718801.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 636,
"cds_start": 650,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427874.1",
"protein_id": "XP_047283830.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 635,
"cds_start": 650,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427875.1",
"protein_id": "XP_047283831.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 633,
"cds_start": 650,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_006718739.3",
"protein_id": "XP_006718802.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 627,
"cds_start": 650,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_006718740.3",
"protein_id": "XP_006718803.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 626,
"cds_start": 650,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_011545362.3",
"protein_id": "XP_011543664.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 567,
"cds_start": 650,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427876.1",
"protein_id": "XP_047283832.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 566,
"cds_start": 650,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427877.1",
"protein_id": "XP_047283833.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 535,
"cds_start": 650,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427878.1",
"protein_id": "XP_047283834.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 534,
"cds_start": 650,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427879.1",
"protein_id": "XP_047283835.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 532,
"cds_start": 650,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg",
"transcript": "XM_047427880.1",
"protein_id": "XP_047283836.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 526,
"cds_start": 650,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Thr42Arg",
"transcript": "XM_047427881.1",
"protein_id": "XP_047283837.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 493,
"cds_start": 125,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "n.650C>G",
"hgvs_p": null,
"transcript": "ENST00000344931.9",
"protein_id": "ENSP00000340334.5",
"transcript_support_level": 2,
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "n.364C>G",
"hgvs_p": null,
"transcript": "ENST00000541964.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "n.836C>G",
"hgvs_p": null,
"transcript": "NR_045638.2",
"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": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"hgvs_c": "n.247-1133C>G",
"hgvs_p": null,
"transcript": "ENST00000545105.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD6",
"gene_hgnc_id": 1691,
"dbsnp": "rs11230562",
"frequency_reference_population": 6.87617e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87617e-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": 0.2548712491989136,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.764,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "ENST00000313421.11",
"gene_symbol": "CD6",
"hgnc_id": 1691,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.650C>G",
"hgvs_p": "p.Thr217Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}