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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: 21-36043918-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36043918&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36043918,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017438.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "NM_017438.5",
"protein_id": "NP_059134.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": "ENST00000332131.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017438.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000332131.9",
"protein_id": "ENSP00000329189.4",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": "NM_017438.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332131.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.693A>T",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000399212.5",
"protein_id": "ENSP00000382161.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 416,
"cds_start": 693,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399212.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000399208.6",
"protein_id": "ENSP00000382159.2",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 307,
"cds_start": 765,
"cds_end": null,
"cds_length": 924,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399208.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.693A>T",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000399201.5",
"protein_id": "ENSP00000382152.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 283,
"cds_start": 693,
"cds_end": null,
"cds_length": 852,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399201.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.693A>T",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000399205.5",
"protein_id": "ENSP00000382156.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 283,
"cds_start": 693,
"cds_end": null,
"cds_length": 852,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399205.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "n.751A>T",
"hgvs_p": null,
"transcript": "ENST00000481477.5",
"protein_id": null,
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481477.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000962399.1",
"protein_id": "ENSP00000632458.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 468,
"cds_start": 765,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962399.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000399215.5",
"protein_id": "ENSP00000382163.1",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399215.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000902513.1",
"protein_id": "ENSP00000572572.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902513.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000902515.1",
"protein_id": "ENSP00000572574.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902515.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000902516.1",
"protein_id": "ENSP00000572575.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902516.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000902517.1",
"protein_id": "ENSP00000572576.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902517.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000931866.1",
"protein_id": "ENSP00000601925.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931866.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000931867.1",
"protein_id": "ENSP00000601926.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931867.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000931868.1",
"protein_id": "ENSP00000601927.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931868.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000931869.1",
"protein_id": "ENSP00000601928.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931869.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000962398.1",
"protein_id": "ENSP00000632457.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 440,
"cds_start": 765,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962398.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000931865.1",
"protein_id": "ENSP00000601924.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 430,
"cds_start": 765,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931865.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp",
"transcript": "ENST00000962396.1",
"protein_id": "ENSP00000632455.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 430,
"cds_start": 765,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962396.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.693A>T",
"hgvs_p": "p.Glu231Asp",
"transcript": "NM_001286752.2",
"protein_id": "NP_001273681.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 416,
"cds_start": 693,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286752.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.669A>T",
"hgvs_p": "p.Glu223Asp",
"transcript": "ENST00000902514.1",
"protein_id": "ENSP00000572573.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 408,
"cds_start": 669,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2776,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440911.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "n.892A>T",
"hgvs_p": null,
"transcript": "NR_040087.3",
"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": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040087.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "n.1030A>T",
"hgvs_p": null,
"transcript": "XR_007067790.1",
"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": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067790.1"
}
],
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"dbsnp": "rs200228540",
"frequency_reference_population": 0.00004336782,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000458319,
"gnomad_genomes_af": 0.0000197062,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45576563477516174,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6723,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.16,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017438.5",
"gene_symbol": "SETD4",
"hgnc_id": 1258,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.765A>T",
"hgvs_p": "p.Glu255Asp"
}
],
"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
}