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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: 1-220151661-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220151661&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 220151661,
"ref": "CCTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_012414.4",
"consequences": [
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3968_3970delAAG",
"hgvs_p": "p.Glu1323del",
"transcript": "NM_012414.4",
"protein_id": "NP_036546.2",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3968,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358951.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012414.4"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3968_3970delAAG",
"hgvs_p": "p.Glu1323del",
"transcript": "ENST00000358951.7",
"protein_id": "ENSP00000351832.2",
"transcript_support_level": 1,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3968,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012414.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358951.7"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.4043_4045delAAG",
"hgvs_p": "p.Glu1348del",
"transcript": "ENST00000692972.1",
"protein_id": "ENSP00000510753.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4043,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692972.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3980_3982delAAG",
"hgvs_p": "p.Glu1327del",
"transcript": "ENST00000691661.1",
"protein_id": "ENSP00000510185.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3980,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691661.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3980_3982delAAG",
"hgvs_p": "p.Glu1327del",
"transcript": "ENST00000888373.1",
"protein_id": "ENSP00000558432.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3980,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888373.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3968_3970delAAG",
"hgvs_p": "p.Glu1323del",
"transcript": "ENST00000888367.1",
"protein_id": "ENSP00000558426.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3968,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888367.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3962_3964delAAG",
"hgvs_p": "p.Glu1321del",
"transcript": "ENST00000888371.1",
"protein_id": "ENSP00000558430.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3962,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888371.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3944_3946delAAG",
"hgvs_p": "p.Glu1315del",
"transcript": "ENST00000947881.1",
"protein_id": "ENSP00000617940.1",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3944,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947881.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3932_3934delAAG",
"hgvs_p": "p.Glu1311del",
"transcript": "ENST00000692813.1",
"protein_id": "ENSP00000509080.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3932,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692813.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3932_3934delAAG",
"hgvs_p": "p.Glu1311del",
"transcript": "ENST00000888372.1",
"protein_id": "ENSP00000558431.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3932,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888372.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3893_3895delAAG",
"hgvs_p": "p.Glu1298del",
"transcript": "ENST00000690824.1",
"protein_id": "ENSP00000510709.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690824.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3893_3895delAAG",
"hgvs_p": "p.Glu1298del",
"transcript": "ENST00000888368.1",
"protein_id": "ENSP00000558427.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888368.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3869_3871delAAG",
"hgvs_p": "p.Glu1290del",
"transcript": "ENST00000690315.1",
"protein_id": "ENSP00000509834.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3869,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690315.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3869_3871delAAG",
"hgvs_p": "p.Glu1290del",
"transcript": "ENST00000947882.1",
"protein_id": "ENSP00000617941.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3869,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947882.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3866_3868delAAG",
"hgvs_p": "p.Glu1289del",
"transcript": "ENST00000691862.1",
"protein_id": "ENSP00000509291.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3866,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691862.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3866_3868delAAG",
"hgvs_p": "p.Glu1289del",
"transcript": "ENST00000888369.1",
"protein_id": "ENSP00000558428.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3866,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888369.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3968_3970delAAG",
"hgvs_p": "p.Glu1323del",
"transcript": "ENST00000685664.1",
"protein_id": "ENSP00000509121.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3968,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685664.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3746_3748delAAG",
"hgvs_p": "p.Glu1249del",
"transcript": "ENST00000888370.1",
"protein_id": "ENSP00000558429.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3746,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888370.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3704_3706delAAG",
"hgvs_p": "p.Glu1235del",
"transcript": "ENST00000686381.1",
"protein_id": "ENSP00000509555.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686381.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3704_3706delAAG",
"hgvs_p": "p.Glu1235del",
"transcript": "ENST00000687065.1",
"protein_id": "ENSP00000510408.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687065.1"
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.3704_3706delAAG",
"hgvs_p": "p.Glu1235del",
"transcript": "ENST00000687647.1",
"protein_id": "ENSP00000509205.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
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"biotype": "retained_intron",
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},
{
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"canonical": false,
"protein_coding": false,
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],
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"gene_symbol": "RAB3GAP2",
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"feature": "ENST00000491005.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
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"gene_symbol": "RAB3GAP2",
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"transcript": "ENST00000491305.2",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000491305.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
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"hgvs_c": "n.*1293_*1295delAAG",
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"transcript": "ENST00000685286.1",
"protein_id": "ENSP00000509457.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685286.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
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"gene_symbol": "RAB3GAP2",
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"feature": "ENST00000688035.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 34,
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"gene_symbol": "RAB3GAP2",
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"feature": "ENST00000690373.1"
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{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
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"hgvs_c": "n.6554_6556delAAG",
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"transcript": "ENST00000693602.1",
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"biotype": "retained_intron",
"feature": "ENST00000693602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.*1293_*1295delAAG",
"hgvs_p": null,
"transcript": "ENST00000685286.1",
"protein_id": "ENSP00000509457.1",
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"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685286.1"
}
],
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"dbsnp": "rs371310481",
"frequency_reference_population": 0.00012716002,
"hom_count_reference_population": 0,
"allele_count_reference_population": 205,
"gnomad_exomes_af": 0.000132893,
"gnomad_genomes_af": 0.0000722164,
"gnomad_exomes_ac": 194,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.958,
"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": "PM4_Supporting,BS1_Supporting",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012414.4",
"gene_symbol": "RAB3GAP2",
"hgnc_id": 17168,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3968_3970delAAG",
"hgvs_p": "p.Glu1323del"
}
],
"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
}