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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: 4-2497044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2497044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2497044,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002938.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "NM_002938.5",
"protein_id": "NP_002929.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 47,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314289.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002938.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000314289.13",
"protein_id": "ENSP00000315212.8",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 47,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002938.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314289.13"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000506706.5",
"protein_id": "ENSP00000424076.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 47,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506706.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000511859.5",
"protein_id": "ENSP00000426615.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 113,
"cds_start": 47,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511859.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000541204.5",
"protein_id": "ENSP00000446369.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 113,
"cds_start": 47,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541204.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000507247.5",
"protein_id": "ENSP00000422728.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 100,
"cds_start": 47,
"cds_end": null,
"cds_length": 305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507247.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000509258.5",
"protein_id": "ENSP00000422500.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 89,
"cds_start": 47,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509258.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "NM_001185009.3",
"protein_id": "NP_001171938.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 47,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185009.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000511600.5",
"protein_id": "ENSP00000426503.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 47,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511600.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000502316.5",
"protein_id": "ENSP00000423100.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 187,
"cds_start": 47,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502316.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000927016.1",
"protein_id": "ENSP00000597075.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 160,
"cds_start": 47,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927016.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000927017.1",
"protein_id": "ENSP00000597076.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 154,
"cds_start": 47,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927017.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "NM_001185010.3",
"protein_id": "NP_001171939.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 113,
"cds_start": 47,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185010.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000504224.5",
"protein_id": "ENSP00000425667.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 67,
"cds_start": 47,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504224.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000513450.1",
"protein_id": "ENSP00000422619.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 53,
"cds_start": 47,
"cds_end": null,
"cds_length": 164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513450.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "XM_047416062.1",
"protein_id": "XP_047272018.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 190,
"cds_start": 47,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.239C>T",
"hgvs_p": null,
"transcript": "ENST00000503123.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000503123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.326C>T",
"hgvs_p": null,
"transcript": "ENST00000507784.5",
"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": "ENST00000507784.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.455C>T",
"hgvs_p": null,
"transcript": "ENST00000509206.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000509206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.193C>T",
"hgvs_p": null,
"transcript": "ENST00000509388.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000509388.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.266C>T",
"hgvs_p": null,
"transcript": "ENST00000511843.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000511843.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.512C>T",
"hgvs_p": null,
"transcript": "ENST00000511892.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000511892.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.356C>T",
"hgvs_p": null,
"transcript": "ENST00000513284.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000513284.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.47C>T",
"hgvs_p": null,
"transcript": "ENST00000513578.5",
"protein_id": "ENSP00000422938.1",
"transcript_support_level": 4,
"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": "ENST00000513578.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "n.267-3615C>T",
"hgvs_p": null,
"transcript": "ENST00000513643.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000513643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"hgvs_c": "c.*32C>T",
"hgvs_p": null,
"transcript": "ENST00000503659.5",
"protein_id": "ENSP00000423186.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 4,
"cds_start": null,
"cds_end": null,
"cds_length": 15,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503659.5"
}
],
"gene_symbol": "RNF4",
"gene_hgnc_id": 10067,
"dbsnp": "rs753448501",
"frequency_reference_population": 0.0000027474791,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274748,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15977555513381958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.101,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_002938.5",
"gene_symbol": "RNF4",
"hgnc_id": 10067,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val"
}
],
"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
}