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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: 4-70783179-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=70783179&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 70783179,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001037442.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "NM_001037442.4",
"protein_id": "NP_001032519.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 620,
"cds_start": 983,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381006.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037442.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000381006.8",
"protein_id": "ENSP00000370394.3",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 620,
"cds_start": 983,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037442.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381006.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "ENST00000417478.6",
"protein_id": "ENSP00000399771.2",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 506,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417478.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000226328.8",
"protein_id": "ENSP00000226328.4",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 469,
"cds_start": 983,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226328.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "ENST00000947599.1",
"protein_id": "ENSP00000617658.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 620,
"cds_start": 983,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947599.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "NM_001291993.2",
"protein_id": "NP_001278922.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 567,
"cds_start": 824,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291993.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "ENST00000502653.5",
"protein_id": "ENSP00000425400.1",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 567,
"cds_start": 824,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502653.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "NM_001130709.2",
"protein_id": "NP_001124181.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 506,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130709.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"transcript": "NM_001291994.2",
"protein_id": "NP_001278923.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 487,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291994.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "NM_014961.5",
"protein_id": "NP_055776.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 469,
"cds_start": 983,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014961.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "NM_001345840.2",
"protein_id": "NP_001332769.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 416,
"cds_start": 824,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345840.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_011531750.3",
"protein_id": "XP_011530052.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 680,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531750.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_047449825.1",
"protein_id": "XP_047305781.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 680,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449825.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_011531751.4",
"protein_id": "XP_011530053.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 657,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531751.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"transcript": "XM_005265656.4",
"protein_id": "XP_005265713.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 638,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265656.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "XM_047449826.1",
"protein_id": "XP_047305782.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 597,
"cds_start": 983,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449826.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_047449827.1",
"protein_id": "XP_047305783.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 586,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449827.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_047449828.1",
"protein_id": "XP_047305784.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 557,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449828.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264Gln",
"transcript": "XM_005265658.3",
"protein_id": "XP_005265715.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 556,
"cds_start": 791,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265658.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_011531755.4",
"protein_id": "XP_011530057.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 529,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531755.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "XM_011531756.4",
"protein_id": "XP_011530058.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 518,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531756.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346Gln",
"transcript": "XM_047449829.1",
"protein_id": "XP_047305785.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 515,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449829.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
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"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"transcript": "XM_047449830.1",
"protein_id": "XP_047305786.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 983,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "n.1361G>A",
"hgvs_p": null,
"transcript": "XR_007096384.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "n.1361G>A",
"hgvs_p": null,
"transcript": "XR_007096385.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"hgvs_c": "n.1361G>A",
"hgvs_p": null,
"transcript": "XR_938709.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_938709.4"
}
],
"gene_symbol": "RUFY3",
"gene_hgnc_id": 30285,
"dbsnp": "rs758649386",
"frequency_reference_population": 0.000029224051,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000274284,
"gnomad_genomes_af": 0.000046003,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22642576694488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.0768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.808,
"phylop100way_prediction": "Pathogenic",
"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_001037442.4",
"gene_symbol": "RUFY3",
"hgnc_id": 30285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln"
}
],
"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
}