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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: 1-220171111-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220171111&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 220171111,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012414.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "NM_012414.4",
"protein_id": "NP_036546.2",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "ENST00000358951.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012414.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000358951.7",
"protein_id": "ENSP00000351832.2",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "NM_012414.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358951.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Thr888Ala",
"transcript": "ENST00000692972.1",
"protein_id": "ENSP00000510753.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1418,
"cds_start": 2662,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692972.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2599A>G",
"hgvs_p": "p.Thr867Ala",
"transcript": "ENST00000691661.1",
"protein_id": "ENSP00000510185.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1397,
"cds_start": 2599,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691661.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2599A>G",
"hgvs_p": "p.Thr867Ala",
"transcript": "ENST00000888373.1",
"protein_id": "ENSP00000558432.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1397,
"cds_start": 2599,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888373.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000888367.1",
"protein_id": "ENSP00000558426.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 7330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888367.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2581A>G",
"hgvs_p": "p.Thr861Ala",
"transcript": "ENST00000888371.1",
"protein_id": "ENSP00000558430.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1391,
"cds_start": 2581,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 2646,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888371.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2563A>G",
"hgvs_p": "p.Thr855Ala",
"transcript": "ENST00000947881.1",
"protein_id": "ENSP00000617940.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1385,
"cds_start": 2563,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947881.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000692813.1",
"protein_id": "ENSP00000509080.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692813.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000888372.1",
"protein_id": "ENSP00000558431.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888372.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000690824.1",
"protein_id": "ENSP00000510709.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690824.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000888368.1",
"protein_id": "ENSP00000558427.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888368.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Thr830Ala",
"transcript": "ENST00000690315.1",
"protein_id": "ENSP00000509834.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2488,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690315.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Thr830Ala",
"transcript": "ENST00000947882.1",
"protein_id": "ENSP00000617941.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2488,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947882.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000691862.1",
"protein_id": "ENSP00000509291.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2485,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691862.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000888369.1",
"protein_id": "ENSP00000558428.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2485,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888369.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000685664.1",
"protein_id": "ENSP00000509121.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1358,
"cds_start": 2587,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685664.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala",
"transcript": "ENST00000888370.1",
"protein_id": "ENSP00000558429.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888370.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2323A>G",
"hgvs_p": "p.Thr775Ala",
"transcript": "ENST00000686381.1",
"protein_id": "ENSP00000509555.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2323,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686381.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2323A>G",
"hgvs_p": "p.Thr775Ala",
"transcript": "ENST00000687065.1",
"protein_id": "ENSP00000510408.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2323,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687065.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2323A>G",
"hgvs_p": "p.Thr775Ala",
"transcript": "ENST00000687647.1",
"protein_id": "ENSP00000509205.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2323,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2615,
"cdna_end": null,
"cdna_length": 5326,
"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,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.2693A>G",
"hgvs_p": null,
"transcript": "ENST00000687394.1",
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"biotype": "retained_intron",
"feature": "ENST00000687394.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
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"hgvs_c": "n.3002A>G",
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"transcript": "ENST00000688035.1",
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"aa_start": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 8184,
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"biotype": "retained_intron",
"feature": "ENST00000688035.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
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"hgvs_c": "n.2926A>G",
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"transcript": "ENST00000690373.1",
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"cdna_start": null,
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"cdna_length": 5637,
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"biotype": "retained_intron",
"feature": "ENST00000690373.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "RAB3GAP2",
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"hgvs_c": "n.2680A>G",
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"transcript": "ENST00000693602.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7760,
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"biotype": "retained_intron",
"feature": "ENST00000693602.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 23,
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"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.2578-4A>G",
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"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": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685286.1"
}
],
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"dbsnp": "rs12045447",
"frequency_reference_population": 0.036651555,
"hom_count_reference_population": 1366,
"allele_count_reference_population": 59143,
"gnomad_exomes_af": 0.0355506,
"gnomad_genomes_af": 0.0472217,
"gnomad_exomes_ac": 51955,
"gnomad_genomes_ac": 7188,
"gnomad_exomes_homalt": 1151,
"gnomad_genomes_homalt": 215,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001203000545501709,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.0662,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.601,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012414.4",
"gene_symbol": "RAB3GAP2",
"hgnc_id": 17168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Thr863Ala"
}
],
"clinvar_disease": "Martsolf syndrome,Warburg micro syndrome 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Warburg micro syndrome 2|Warburg micro syndrome 2;Martsolf syndrome|Martsolf syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}