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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: 10-101411433-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101411433&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101411433,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_033637.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-18912G>C",
"hgvs_p": null,
"transcript": "NM_033637.4",
"protein_id": "NP_378663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370187.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033637.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-18912G>C",
"hgvs_p": null,
"transcript": "ENST00000370187.8",
"protein_id": "ENSP00000359206.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033637.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370187.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-18912G>C",
"hgvs_p": null,
"transcript": "ENST00000393441.8",
"protein_id": "ENSP00000377088.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393441.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-50548G>C",
"hgvs_p": null,
"transcript": "ENST00000408038.6",
"protein_id": "ENSP00000385339.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408038.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.141+3900G>C",
"hgvs_p": null,
"transcript": "ENST00000861880.1",
"protein_id": "ENSP00000531939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-18912G>C",
"hgvs_p": null,
"transcript": "ENST00000953682.1",
"protein_id": "ENSP00000623741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.141+3900G>C",
"hgvs_p": null,
"transcript": "ENST00000861881.1",
"protein_id": "ENSP00000531940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.141+3900G>C",
"hgvs_p": null,
"transcript": "ENST00000861879.1",
"protein_id": "ENSP00000531938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-18912G>C",
"hgvs_p": null,
"transcript": "NM_001256856.2",
"protein_id": "NP_001243785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256856.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-18912G>C",
"hgvs_p": null,
"transcript": "ENST00000861883.1",
"protein_id": "ENSP00000531942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.141+3900G>C",
"hgvs_p": null,
"transcript": "ENST00000924128.1",
"protein_id": "ENSP00000594187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
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"cds_length": 1725,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000924128.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.49-50548G>C",
"hgvs_p": null,
"transcript": "NM_003939.5",
"protein_id": "NP_003930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003939.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.48+57205G>C",
"hgvs_p": null,
"transcript": "ENST00000861882.1",
"protein_id": "ENSP00000531941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000861882.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-6-18912G>C",
"hgvs_p": null,
"transcript": "ENST00000370183.2",
"protein_id": "ENSP00000359202.2",
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"feature": "ENST00000370183.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.430-18912G>C",
"hgvs_p": null,
"transcript": "XM_006718054.3",
"protein_id": "XP_006718117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718054.3"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.430-18912G>C",
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"transcript": "XM_017016870.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-7+3900G>C",
"hgvs_p": null,
"transcript": "XM_017016871.2",
"protein_id": "XP_016872360.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_017016871.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-7+3568G>C",
"hgvs_p": null,
"transcript": "XM_017016873.3",
"protein_id": "XP_016872362.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 587,
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"cdna_start": null,
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"mane_select": null,
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"feature": "XM_017016873.3"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-7+3900G>C",
"hgvs_p": null,
"transcript": "XM_047425983.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "BTRC",
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"hgvs_c": "c.-7+3568G>C",
"hgvs_p": null,
"transcript": "XM_047425984.1",
"protein_id": "XP_047281940.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "BTRC",
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"hgvs_c": "c.48+57205G>C",
"hgvs_p": null,
"transcript": "XM_017016874.2",
"protein_id": "XP_016872363.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017016874.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-141-50548G>C",
"hgvs_p": null,
"transcript": "XM_047425986.1",
"protein_id": "XP_047281942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425986.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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{
"aa_ref": null,
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"strand": true,
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],
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "BTRC",
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"transcript": "ENST00000475200.5",
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"biotype": "pseudogene",
"feature": "ENST00000475200.5"
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],
"gene_symbol": "BTRC",
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"dbsnp": "rs10883642",
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"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": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.732,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_033637.4",
"gene_symbol": "BTRC",
"hgnc_id": 1144,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.49-18912G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}