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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: 13-95584820-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95584820&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95584820,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198968.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "NM_198968.4",
"protein_id": "NP_945319.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 867,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198968.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000376829.7",
"protein_id": "ENSP00000366025.2",
"transcript_support_level": 1,
"aa_start": 814,
"aa_end": null,
"aa_length": 867,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376829.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2383C>A",
"hgvs_p": "p.Pro795Thr",
"transcript": "ENST00000361396.6",
"protein_id": "ENSP00000355175.2",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 848,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361396.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2494C>A",
"hgvs_p": "p.Pro832Thr",
"transcript": "ENST00000926439.1",
"protein_id": "ENSP00000596498.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 885,
"cds_start": 2494,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926439.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000347108.7",
"protein_id": "ENSP00000257312.5",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 867,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347108.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000897707.1",
"protein_id": "ENSP00000567766.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 867,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897707.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000897709.1",
"protein_id": "ENSP00000567768.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 867,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897709.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr",
"transcript": "ENST00000897710.1",
"protein_id": "ENSP00000567769.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 867,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897710.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2425C>A",
"hgvs_p": "p.Pro809Thr",
"transcript": "ENST00000897703.1",
"protein_id": "ENSP00000567762.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 862,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897703.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2383C>A",
"hgvs_p": "p.Pro795Thr",
"transcript": "NM_014934.5",
"protein_id": "NP_055749.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 848,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014934.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2383C>A",
"hgvs_p": "p.Pro795Thr",
"transcript": "ENST00000361156.7",
"protein_id": "ENSP00000355018.3",
"transcript_support_level": 5,
"aa_start": 795,
"aa_end": null,
"aa_length": 848,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361156.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2380C>A",
"hgvs_p": "p.Pro794Thr",
"transcript": "ENST00000897705.1",
"protein_id": "ENSP00000567764.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897705.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2380C>A",
"hgvs_p": "p.Pro794Thr",
"transcript": "ENST00000897706.1",
"protein_id": "ENSP00000567765.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897706.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2380C>A",
"hgvs_p": "p.Pro794Thr",
"transcript": "ENST00000897711.1",
"protein_id": "ENSP00000567770.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 847,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897711.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2365C>A",
"hgvs_p": "p.Pro789Thr",
"transcript": "ENST00000947291.1",
"protein_id": "ENSP00000617350.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 842,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947291.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Pro776Thr",
"transcript": "ENST00000897708.1",
"protein_id": "ENSP00000567767.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 829,
"cds_start": 2326,
"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": "ENST00000897708.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2323C>A",
"hgvs_p": "p.Pro775Thr",
"transcript": "ENST00000897712.1",
"protein_id": "ENSP00000567771.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 828,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897712.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2302C>A",
"hgvs_p": "p.Pro768Thr",
"transcript": "ENST00000897704.1",
"protein_id": "ENSP00000567763.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 821,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897704.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2302C>A",
"hgvs_p": "p.Pro768Thr",
"transcript": "ENST00000926437.1",
"protein_id": "ENSP00000596496.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 821,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926437.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2287C>A",
"hgvs_p": "p.Pro763Thr",
"transcript": "ENST00000947292.1",
"protein_id": "ENSP00000617351.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 816,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947292.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2266C>A",
"hgvs_p": "p.Pro756Thr",
"transcript": "ENST00000947293.1",
"protein_id": "ENSP00000617352.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 809,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947293.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2227C>A",
"hgvs_p": "p.Pro743Thr",
"transcript": "ENST00000926436.1",
"protein_id": "ENSP00000596495.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
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"gene_hgnc_id": 20908,
"hgvs_c": "c.2365C>A",
"hgvs_p": "p.Pro789Thr",
"transcript": "XM_047430180.1",
"protein_id": "XP_047286136.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 842,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430180.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.1621C>A",
"hgvs_p": "p.Pro541Thr",
"transcript": "XM_047430181.1",
"protein_id": "XP_047286137.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 613,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "n.358C>A",
"hgvs_p": null,
"transcript": "ENST00000479518.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000479518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "n.817C>A",
"hgvs_p": null,
"transcript": "ENST00000485031.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000485031.5"
}
],
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"dbsnp": "rs143254972",
"frequency_reference_population": 0.000030360334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000314677,
"gnomad_genomes_af": 0.00001972,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06808605790138245,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.0631,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.014,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198968.4",
"gene_symbol": "DZIP1",
"hgnc_id": 20908,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.Pro814Thr"
}
],
"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
}