← 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: 3-128807566-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128807566&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128807566,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004637.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "NM_004637.6",
"protein_id": "NP_004628.4",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265062.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004637.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000265062.8",
"protein_id": "ENSP00000265062.3",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004637.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265062.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.282C>A",
"hgvs_p": "p.Ala94Ala",
"transcript": "ENST00000482525.5",
"protein_id": "ENSP00000417668.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 160,
"cds_start": 282,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482525.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.522C>A",
"hgvs_p": "p.Ala174Ala",
"transcript": "ENST00000901020.1",
"protein_id": "ENSP00000571079.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 240,
"cds_start": 522,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901020.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000675864.1",
"protein_id": "ENSP00000502566.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 217,
"cds_start": 423,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675864.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000676425.1",
"protein_id": "ENSP00000502084.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 211,
"cds_start": 423,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676425.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000674589.1",
"protein_id": "ENSP00000502088.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674589.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000675342.1",
"protein_id": "ENSP00000502486.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675342.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000675497.1",
"protein_id": "ENSP00000502000.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675497.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000676214.1",
"protein_id": "ENSP00000501618.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676214.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901016.1",
"protein_id": "ENSP00000571075.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901016.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901017.1",
"protein_id": "ENSP00000571076.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901017.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901018.1",
"protein_id": "ENSP00000571077.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901018.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901019.1",
"protein_id": "ENSP00000571078.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901019.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901021.1",
"protein_id": "ENSP00000571080.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901021.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901022.1",
"protein_id": "ENSP00000571081.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901022.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901023.1",
"protein_id": "ENSP00000571082.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901023.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901024.1",
"protein_id": "ENSP00000571083.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901024.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901025.1",
"protein_id": "ENSP00000571084.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901025.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901026.1",
"protein_id": "ENSP00000571085.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901026.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901027.1",
"protein_id": "ENSP00000571086.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901027.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901028.1",
"protein_id": "ENSP00000571087.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901028.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000901029.1",
"protein_id": "ENSP00000571088.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901029.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000931691.1",
"protein_id": "ENSP00000601750.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931691.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000931693.1",
"protein_id": "ENSP00000601752.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931693.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000931694.1",
"protein_id": "ENSP00000601753.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931694.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000931695.1",
"protein_id": "ENSP00000601754.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931695.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000931696.1",
"protein_id": "ENSP00000601755.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931696.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966841.1",
"protein_id": "ENSP00000636900.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966841.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966842.1",
"protein_id": "ENSP00000636901.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966842.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966843.1",
"protein_id": "ENSP00000636902.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966843.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966844.1",
"protein_id": "ENSP00000636903.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966844.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966845.1",
"protein_id": "ENSP00000636904.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966845.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966846.1",
"protein_id": "ENSP00000636905.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966846.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000966847.1",
"protein_id": "ENSP00000636906.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 423,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966847.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000931692.1",
"protein_id": "ENSP00000601751.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 204,
"cds_start": 423,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931692.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.351C>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "ENST00000674748.1",
"protein_id": "ENSP00000502224.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 183,
"cds_start": 351,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674748.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000464496.5",
"protein_id": "ENSP00000417978.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 149,
"cds_start": 423,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464496.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.204C>A",
"hgvs_p": "p.Ala68Ala",
"transcript": "ENST00000483906.5",
"protein_id": "ENSP00000417155.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 134,
"cds_start": 204,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483906.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.204C>A",
"hgvs_p": "p.Ala68Ala",
"transcript": "ENST00000901014.1",
"protein_id": "ENSP00000571073.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 134,
"cds_start": 204,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901014.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.148-52C>A",
"hgvs_p": null,
"transcript": "ENST00000493186.6",
"protein_id": "ENSP00000417189.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493186.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.181-5761C>A",
"hgvs_p": null,
"transcript": "ENST00000485280.1",
"protein_id": "ENSP00000418283.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485280.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.181-5761C>A",
"hgvs_p": null,
"transcript": "ENST00000901015.1",
"protein_id": "ENSP00000571074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.436C>A",
"hgvs_p": null,
"transcript": "ENST00000490093.6",
"protein_id": "ENSP00000418955.2",
"transcript_support_level": 5,
"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": "ENST00000490093.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.421C>A",
"hgvs_p": null,
"transcript": "ENST00000674593.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000674593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.1607C>A",
"hgvs_p": null,
"transcript": "ENST00000675712.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000675712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*303C>A",
"hgvs_p": null,
"transcript": "ENST00000676147.1",
"protein_id": "ENSP00000501656.1",
"transcript_support_level": null,
"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": "ENST00000676147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*303C>A",
"hgvs_p": null,
"transcript": "ENST00000676147.1",
"protein_id": "ENSP00000501656.1",
"transcript_support_level": null,
"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": "ENST00000676147.1"
}
],
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"dbsnp": "rs61758751",
"frequency_reference_population": 0.000002052183,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205218,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2199999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.6,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004637.6",
"gene_symbol": "RAB7A",
"hgnc_id": 9788,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}