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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: 19-19008384-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19008384&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19008384,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321698.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001017392.5",
"protein_id": "NP_001017392.2",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000452918.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017392.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000452918.7",
"protein_id": "ENSP00000389380.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017392.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452918.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000337018.10",
"protein_id": "ENSP00000337926.5",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337018.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.2383G>A",
"hgvs_p": null,
"transcript": "ENST00000330854.15",
"protein_id": "ENSP00000332373.10",
"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": "nonsense_mediated_decay",
"feature": "ENST00000330854.15"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2479G>A",
"hgvs_p": "p.Val827Ile",
"transcript": "ENST00000953719.1",
"protein_id": "ENSP00000623778.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2479,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953719.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2479G>A",
"hgvs_p": "p.Val827Ile",
"transcript": "ENST00000953720.1",
"protein_id": "ENSP00000623779.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2479,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953720.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2479G>A",
"hgvs_p": "p.Val827Ile",
"transcript": "ENST00000953723.1",
"protein_id": "ENSP00000623782.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2479,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953723.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2431G>A",
"hgvs_p": "p.Val811Ile",
"transcript": "ENST00000928453.1",
"protein_id": "ENSP00000598512.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2431,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928453.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Val809Ile",
"transcript": "NM_001321698.1",
"protein_id": "NP_001308627.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321698.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Val809Ile",
"transcript": "NM_001321699.1",
"protein_id": "NP_001308628.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321699.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Val809Ile",
"transcript": "ENST00000600377.1",
"protein_id": "ENSP00000472914.1",
"transcript_support_level": 2,
"aa_start": 809,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600377.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001321697.2",
"protein_id": "NP_001308626.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321697.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001352071.2",
"protein_id": "NP_001339000.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352071.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_014884.5",
"protein_id": "NP_055699.2",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014884.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000601879.5",
"protein_id": "ENSP00000472286.1",
"transcript_support_level": 2,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601879.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867061.1",
"protein_id": "ENSP00000537120.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867061.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867062.1",
"protein_id": "ENSP00000537121.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867062.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867063.1",
"protein_id": "ENSP00000537122.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867063.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867064.1",
"protein_id": "ENSP00000537123.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867064.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867065.1",
"protein_id": "ENSP00000537124.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867065.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867066.1",
"protein_id": "ENSP00000537125.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867066.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000867067.1",
"protein_id": "ENSP00000537126.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.2475G>A",
"hgvs_p": null,
"transcript": "XR_007066531.1",
"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": "XR_007066531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.2477G>A",
"hgvs_p": null,
"transcript": "XR_430122.5",
"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": "XR_430122.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.2477G>A",
"hgvs_p": null,
"transcript": "XR_430124.5",
"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": "XR_430124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.*1433G>A",
"hgvs_p": null,
"transcript": "ENST00000598240.1",
"protein_id": "ENSP00000472244.1",
"transcript_support_level": 2,
"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": "ENST00000598240.1"
}
],
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"dbsnp": "rs999611321",
"frequency_reference_population": 0.0000049562796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": 0.0000328455,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31360065937042236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.5358,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.108,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001321698.1",
"gene_symbol": "SUGP2",
"hgnc_id": 18641,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Val809Ile"
}
],
"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
}