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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: 1-220210803-CAGTGTAGAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220210803&ref=CAGTGTAGAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 220210803,
"ref": "CAGTGTAGAA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000358951.7",
"consequences": [
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "NM_012414.4",
"protein_id": "NP_036546.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1393,
"cds_start": 499,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "ENST00000358951.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000358951.7",
"protein_id": "ENSP00000351832.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1393,
"cds_start": 499,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "NM_012414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000692972.1",
"protein_id": "ENSP00000510753.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1418,
"cds_start": 499,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.511_519delTTCTACACT",
"hgvs_p": "p.Phe171_Thr173del",
"transcript": "ENST00000691661.1",
"protein_id": "ENSP00000510185.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 1397,
"cds_start": 511,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000692813.1",
"protein_id": "ENSP00000509080.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1381,
"cds_start": 499,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000690824.1",
"protein_id": "ENSP00000510709.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1368,
"cds_start": 499,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000690315.1",
"protein_id": "ENSP00000509834.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1360,
"cds_start": 499,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000691862.1",
"protein_id": "ENSP00000509291.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1359,
"cds_start": 499,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000685664.1",
"protein_id": "ENSP00000509121.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1358,
"cds_start": 499,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.235_243delTTCTACACT",
"hgvs_p": "p.Phe79_Thr81del",
"transcript": "ENST00000686381.1",
"protein_id": "ENSP00000509555.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 1305,
"cds_start": 235,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.235_243delTTCTACACT",
"hgvs_p": "p.Phe79_Thr81del",
"transcript": "ENST00000687065.1",
"protein_id": "ENSP00000510408.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 1305,
"cds_start": 235,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.235_243delTTCTACACT",
"hgvs_p": "p.Phe79_Thr81del",
"transcript": "ENST00000687647.1",
"protein_id": "ENSP00000509205.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 1305,
"cds_start": 235,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FYT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del",
"transcript": "ENST00000689820.1",
"protein_id": "ENSP00000509387.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 328,
"cds_start": 499,
"cds_end": null,
"cds_length": 987,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.*44_*52delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000474178.1",
"protein_id": "ENSP00000420156.1",
"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": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.203_211delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000484658.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.499_507delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000685286.1",
"protein_id": "ENSP00000509457.1",
"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": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.605_613delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000687394.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.603_611delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000688035.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.529_537delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000688281.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.871_879delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000688904.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.527_535delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000690373.1",
"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": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.529_537delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000690379.1",
"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,
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"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
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"transcript": "ENST00000692208.1",
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"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1281,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.592_600delTTCTACACT",
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"transcript": "ENST00000693602.1",
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"cds_start": -4,
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"cdna_length": 7760,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.*44_*52delTTCTACACT",
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"transcript": "ENST00000474178.1",
"protein_id": "ENSP00000420156.1",
"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,
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"cdna_length": 539,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.305+143_305+151delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000237724.9",
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"aa_end": null,
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"cdna_length": 821,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.292-20387_292-20379delTTCTACACT",
"hgvs_p": null,
"transcript": "ENST00000478976.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"dbsnp": "rs1553278569",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.972,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM4",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000358951.7",
"gene_symbol": "RAB3GAP2",
"hgnc_id": 17168,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.499_507delTTCTACACT",
"hgvs_p": "p.Phe167_Thr169del"
}
],
"clinvar_disease": "Warburg micro syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Warburg micro syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}