← 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: 17-5335213-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5335213&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5335213,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004703.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "NM_004703.6",
"protein_id": "NP_004694.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 862,
"cds_start": 397,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000537505.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004703.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000537505.6",
"protein_id": "ENSP00000445408.2",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 862,
"cds_start": 397,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004703.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537505.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000341923.10",
"protein_id": "ENSP00000339569.6",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 829,
"cds_start": 397,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341923.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "n.433C>T",
"hgvs_p": null,
"transcript": "ENST00000575475.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000575475.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876352.1",
"protein_id": "ENSP00000546411.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 878,
"cds_start": 397,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876352.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000947556.1",
"protein_id": "ENSP00000617615.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 861,
"cds_start": 397,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947556.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876345.1",
"protein_id": "ENSP00000546404.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 860,
"cds_start": 397,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876345.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.His131Tyr",
"transcript": "ENST00000947557.1",
"protein_id": "ENSP00000617616.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 860,
"cds_start": 391,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947557.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876346.1",
"protein_id": "ENSP00000546405.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 855,
"cds_start": 397,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876346.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000947561.1",
"protein_id": "ENSP00000617620.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 853,
"cds_start": 397,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947561.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "NM_001083585.3",
"protein_id": "NP_001077054.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 829,
"cds_start": 397,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083585.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000947560.1",
"protein_id": "ENSP00000617619.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 829,
"cds_start": 397,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947560.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876349.1",
"protein_id": "ENSP00000546408.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 823,
"cds_start": 397,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876349.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000911616.1",
"protein_id": "ENSP00000581675.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 823,
"cds_start": 397,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911616.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876343.1",
"protein_id": "ENSP00000546402.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 822,
"cds_start": 397,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876343.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000947558.1",
"protein_id": "ENSP00000617617.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 822,
"cds_start": 397,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947558.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000947555.1",
"protein_id": "ENSP00000617614.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 820,
"cds_start": 397,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947555.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.His90Tyr",
"transcript": "NM_001291581.2",
"protein_id": "NP_001278510.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 819,
"cds_start": 268,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291581.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.His90Tyr",
"transcript": "ENST00000876344.1",
"protein_id": "ENSP00000546403.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 819,
"cds_start": 268,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876344.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876351.1",
"protein_id": "ENSP00000546410.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 818,
"cds_start": 397,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876351.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000911619.1",
"protein_id": "ENSP00000581678.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 815,
"cds_start": 397,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911619.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.His90Tyr",
"transcript": "ENST00000947559.1",
"protein_id": "ENSP00000617618.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 812,
"cds_start": 268,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947559.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876348.1",
"protein_id": "ENSP00000546407.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 805,
"cds_start": 397,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876348.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876350.1",
"protein_id": "ENSP00000546409.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 790,
"cds_start": 397,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876350.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.His90Tyr",
"transcript": "ENST00000911618.1",
"protein_id": "ENSP00000581677.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 786,
"cds_start": 268,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911618.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876347.1",
"protein_id": "ENSP00000546406.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 783,
"cds_start": 397,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876347.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.His90Tyr",
"transcript": "ENST00000911620.1",
"protein_id": "ENSP00000581679.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 628,
"cds_start": 268,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911620.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "ENST00000876342.1",
"protein_id": "ENSP00000546401.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 581,
"cds_start": 397,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876342.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "NM_001291582.2",
"protein_id": "NP_001278511.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 190,
"cds_start": 397,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291582.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "ENST00000570487.1",
"protein_id": "ENSP00000482983.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 100,
"cds_start": 127,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570487.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr",
"transcript": "XM_011524060.3",
"protein_id": "XP_011522362.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 884,
"cds_start": 397,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524060.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.His49Tyr",
"transcript": "XM_047437038.1",
"protein_id": "XP_047292994.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 800,
"cds_start": 145,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437038.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.His49Tyr",
"transcript": "XM_047437039.1",
"protein_id": "XP_047292995.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 800,
"cds_start": 145,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437039.1"
},
{
"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": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.52-11676C>T",
"hgvs_p": null,
"transcript": "ENST00000911617.1",
"protein_id": "ENSP00000581676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911617.1"
}
],
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"dbsnp": "rs759138228",
"frequency_reference_population": 0.00001364182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143774,
"gnomad_genomes_af": 0.00000657609,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47135433554649353,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.1562,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.481,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_004703.6",
"gene_symbol": "RABEP1",
"hgnc_id": 17677,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.397C>T",
"hgvs_p": "p.His133Tyr"
}
],
"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
}