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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: 5-177458587-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177458587&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177458587,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001393630.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"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.1385G>A",
"hgvs_p": "p.Ser462Asn",
"transcript": "NM_001363541.2",
"protein_id": "NP_001350470.2",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 695,
"cds_start": 1385,
"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": "S",
"aa_alt": "N",
"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.1385G>A",
"hgvs_p": "p.Ser462Asn",
"transcript": "ENST00000393565.6",
"protein_id": "ENSP00000377195.1",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 695,
"cds_start": 1385,
"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": "S",
"aa_alt": "N",
"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.1253G>A",
"hgvs_p": "p.Ser418Asn",
"transcript": "ENST00000292385.9",
"protein_id": "ENSP00000292385.5",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 651,
"cds_start": 1253,
"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": "S",
"aa_alt": "N",
"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.1247G>A",
"hgvs_p": "p.Ser416Asn",
"transcript": "ENST00000309007.9",
"protein_id": "ENSP00000308532.5",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 649,
"cds_start": 1247,
"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": "S",
"aa_alt": "N",
"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.1391G>A",
"hgvs_p": "p.Ser464Asn",
"transcript": "NM_001393630.1",
"protein_id": "NP_001380559.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 697,
"cds_start": 1391,
"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": "S",
"aa_alt": "N",
"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.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "NM_001364151.2",
"protein_id": "NP_001351080.2",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 694,
"cds_start": 1382,
"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": "S",
"aa_alt": "N",
"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.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "ENST00000853644.1",
"protein_id": "ENSP00000523703.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 694,
"cds_start": 1382,
"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": "S",
"aa_alt": "N",
"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.1304G>A",
"hgvs_p": "p.Ser435Asn",
"transcript": "ENST00000853643.1",
"protein_id": "ENSP00000523702.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 668,
"cds_start": 1304,
"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": "S",
"aa_alt": "N",
"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.1253G>A",
"hgvs_p": "p.Ser418Asn",
"transcript": "NM_080881.3",
"protein_id": "NP_543157.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 651,
"cds_start": 1253,
"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": "S",
"aa_alt": "N",
"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.1247G>A",
"hgvs_p": "p.Ser416Asn",
"transcript": "NM_004395.4",
"protein_id": "NP_004386.3",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 649,
"cds_start": 1247,
"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": "S",
"aa_alt": "N",
"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.1247G>A",
"hgvs_p": "p.Ser416Asn",
"transcript": "ENST00000853640.1",
"protein_id": "ENSP00000523699.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 649,
"cds_start": 1247,
"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": "S",
"aa_alt": "N",
"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.1244G>A",
"hgvs_p": "p.Ser415Asn",
"transcript": "ENST00000853639.1",
"protein_id": "ENSP00000523698.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 648,
"cds_start": 1244,
"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": "S",
"aa_alt": "N",
"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.1244G>A",
"hgvs_p": "p.Ser415Asn",
"transcript": "ENST00000853641.1",
"protein_id": "ENSP00000523700.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 648,
"cds_start": 1244,
"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": "S",
"aa_alt": "N",
"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.1244G>A",
"hgvs_p": "p.Ser415Asn",
"transcript": "ENST00000952661.1",
"protein_id": "ENSP00000622720.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 648,
"cds_start": 1244,
"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": "S",
"aa_alt": "N",
"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.1241G>A",
"hgvs_p": "p.Ser414Asn",
"transcript": "ENST00000952662.1",
"protein_id": "ENSP00000622721.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 647,
"cds_start": 1241,
"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": "S",
"aa_alt": "N",
"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.1241G>A",
"hgvs_p": "p.Ser414Asn",
"transcript": "ENST00000952663.1",
"protein_id": "ENSP00000622722.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 647,
"cds_start": 1241,
"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": "S",
"aa_alt": "N",
"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.1196G>A",
"hgvs_p": "p.Ser399Asn",
"transcript": "NM_001393631.1",
"protein_id": "NP_001380560.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 632,
"cds_start": 1196,
"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": "S",
"aa_alt": "N",
"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.1187G>A",
"hgvs_p": "p.Ser396Asn",
"transcript": "ENST00000952660.1",
"protein_id": "ENSP00000622719.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 629,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952660.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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.1100G>A",
"hgvs_p": "p.Ser367Asn",
"transcript": "ENST00000853642.1",
"protein_id": "ENSP00000523701.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 600,
"cds_start": 1100,
"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": "S",
"aa_alt": "N",
"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.443G>A",
"hgvs_p": "p.Ser148Asn",
"transcript": "ENST00000512501.1",
"protein_id": "ENSP00000423208.1",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 391,
"cds_start": 443,
"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": "S",
"aa_alt": "N",
"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.443G>A",
"hgvs_p": "p.Ser148Asn",
"transcript": "NM_001364152.2",
"protein_id": "NP_001351081.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 381,
"cds_start": 443,
"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": "S",
"aa_alt": "N",
"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.1391G>A",
"hgvs_p": "p.Ser464Asn",
"transcript": "XM_017009139.2",
"protein_id": "XP_016864628.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 697,
"cds_start": 1391,
"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": "S",
"aa_alt": "N",
"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.1097G>A",
"hgvs_p": "p.Ser366Asn",
"transcript": "XM_047416833.1",
"protein_id": "XP_047272789.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 599,
"cds_start": 1097,
"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.503G>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.1465G>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": "rs1756749566",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11683261394500732,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.986,
"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_001393630.1",
"gene_symbol": "DBN1",
"hgnc_id": 2695,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1391G>A",
"hgvs_p": "p.Ser464Asn"
}
],
"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
}