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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: 5-177458675-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177458675&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177458675,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001393630.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Glu433Lys",
"transcript": "NM_001363541.2",
"protein_id": "NP_001350470.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 695,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393565.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363541.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Glu433Lys",
"transcript": "ENST00000393565.6",
"protein_id": "ENSP00000377195.1",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 695,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363541.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393565.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "ENST00000292385.9",
"protein_id": "ENSP00000292385.5",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 651,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292385.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Glu387Lys",
"transcript": "ENST00000309007.9",
"protein_id": "ENSP00000308532.5",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 649,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309007.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Glu435Lys",
"transcript": "NM_001393630.1",
"protein_id": "NP_001380559.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 697,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393630.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Glu432Lys",
"transcript": "NM_001364151.2",
"protein_id": "NP_001351080.2",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 694,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364151.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Glu432Lys",
"transcript": "ENST00000853644.1",
"protein_id": "ENSP00000523703.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 694,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853644.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Glu406Lys",
"transcript": "ENST00000853643.1",
"protein_id": "ENSP00000523702.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 668,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853643.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "NM_080881.3",
"protein_id": "NP_543157.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 651,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080881.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Glu387Lys",
"transcript": "NM_004395.4",
"protein_id": "NP_004386.3",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 649,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004395.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Glu387Lys",
"transcript": "ENST00000853640.1",
"protein_id": "ENSP00000523699.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 649,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853640.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Glu386Lys",
"transcript": "ENST00000853639.1",
"protein_id": "ENSP00000523698.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 648,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853639.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Glu386Lys",
"transcript": "ENST00000853641.1",
"protein_id": "ENSP00000523700.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 648,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853641.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Glu386Lys",
"transcript": "ENST00000952661.1",
"protein_id": "ENSP00000622720.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 648,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952661.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Glu385Lys",
"transcript": "ENST00000952662.1",
"protein_id": "ENSP00000622721.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 647,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952662.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Glu385Lys",
"transcript": "ENST00000952663.1",
"protein_id": "ENSP00000622722.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 647,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952663.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys",
"transcript": "NM_001393631.1",
"protein_id": "NP_001380560.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 632,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393631.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Glu367Lys",
"transcript": "ENST00000952660.1",
"protein_id": "ENSP00000622719.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 629,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952660.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Glu338Lys",
"transcript": "ENST00000853642.1",
"protein_id": "ENSP00000523701.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 600,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853642.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Glu119Lys",
"transcript": "ENST00000512501.1",
"protein_id": "ENSP00000423208.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 391,
"cds_start": 355,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512501.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Glu119Lys",
"transcript": "NM_001364152.2",
"protein_id": "NP_001351081.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 381,
"cds_start": 355,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364152.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Glu435Lys",
"transcript": "XM_017009139.2",
"protein_id": "XP_016864628.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 697,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009139.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "XM_047416833.1",
"protein_id": "XP_047272789.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 599,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416833.1"
},
{
"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": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "n.415G>A",
"hgvs_p": null,
"transcript": "ENST00000467054.2",
"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": "retained_intron",
"feature": "ENST00000467054.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"hgvs_c": "n.1377G>A",
"hgvs_p": null,
"transcript": "ENST00000472831.5",
"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": "retained_intron",
"feature": "ENST00000472831.5"
}
],
"gene_symbol": "DBN1",
"gene_hgnc_id": 2695,
"dbsnp": "rs746526803",
"frequency_reference_population": 0.000016638785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000163074,
"gnomad_genomes_af": 0.0000197096,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0778755247592926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0621,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.759,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001393630.1",
"gene_symbol": "DBN1",
"hgnc_id": 2695,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Glu435Lys"
}
],
"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
}