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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: 3-128806404-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128806404&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128806404,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004637.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "NM_004637.6",
"protein_id": "NP_004628.4",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000265062.8",
"protein_id": "ENSP00000265062.3",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000482525.5",
"protein_id": "ENSP00000417668.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 160,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.312G>A",
"hgvs_p": "p.Gln104Gln",
"transcript": "ENST00000901020.1",
"protein_id": "ENSP00000571079.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 240,
"cds_start": 312,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000675864.1",
"protein_id": "ENSP00000502566.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 217,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000676425.1",
"protein_id": "ENSP00000502084.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 211,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000674589.1",
"protein_id": "ENSP00000502088.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000675342.1",
"protein_id": "ENSP00000502486.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000675497.1",
"protein_id": "ENSP00000502000.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000676214.1",
"protein_id": "ENSP00000501618.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901016.1",
"protein_id": "ENSP00000571075.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901017.1",
"protein_id": "ENSP00000571076.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901018.1",
"protein_id": "ENSP00000571077.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901019.1",
"protein_id": "ENSP00000571078.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901021.1",
"protein_id": "ENSP00000571080.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901022.1",
"protein_id": "ENSP00000571081.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901023.1",
"protein_id": "ENSP00000571082.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901024.1",
"protein_id": "ENSP00000571083.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901025.1",
"protein_id": "ENSP00000571084.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901026.1",
"protein_id": "ENSP00000571085.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"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.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901027.1",
"protein_id": "ENSP00000571086.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln",
"transcript": "ENST00000901028.1",
"protein_id": "ENSP00000571087.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 213,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"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.445G>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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*93G>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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*93G>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": "rs140299645",
"frequency_reference_population": 0.000115858915,
"hom_count_reference_population": 0,
"allele_count_reference_population": 187,
"gnomad_exomes_af": 0.00011698,
"gnomad_genomes_af": 0.000105094,
"gnomad_exomes_ac": 171,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.184,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004637.6",
"gene_symbol": "RAB7A",
"hgnc_id": 9788,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Gln71Gln"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2B,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2B|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}