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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: 1-201999950-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201999950&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201999950,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020216.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "NM_020216.4",
"protein_id": "NP_064601.3",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 650,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295640.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020216.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "ENST00000295640.9",
"protein_id": "ENSP00000295640.4",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 650,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020216.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295640.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "n.848G>A",
"hgvs_p": null,
"transcript": "ENST00000471105.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471105.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000967255.1",
"protein_id": "ENSP00000637314.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 649,
"cds_start": 1136,
"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": "ENST00000967255.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "ENST00000857425.1",
"protein_id": "ENSP00000527484.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 638,
"cds_start": 1103,
"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": "ENST00000857425.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000367286.7",
"protein_id": "ENSP00000356255.3",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 611,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367286.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338His",
"transcript": "ENST00000934089.1",
"protein_id": "ENSP00000604148.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 608,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934089.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "ENST00000857431.1",
"protein_id": "ENSP00000527490.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 592,
"cds_start": 965,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857431.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "ENST00000857427.1",
"protein_id": "ENSP00000527486.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 576,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295His",
"transcript": "ENST00000857429.1",
"protein_id": "ENSP00000527488.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 565,
"cds_start": 884,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857429.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000857430.1",
"protein_id": "ENSP00000527489.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 562,
"cds_start": 875,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857430.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249His",
"transcript": "NM_001319182.2",
"protein_id": "NP_001306111.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 519,
"cds_start": 746,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319182.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90His",
"transcript": "NM_001319183.2",
"protein_id": "NP_001306112.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 360,
"cds_start": 269,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319183.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90His",
"transcript": "NM_001319184.2",
"protein_id": "NP_001306113.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 360,
"cds_start": 269,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319184.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249His",
"transcript": "ENST00000447312.5",
"protein_id": "ENSP00000389602.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 343,
"cds_start": 746,
"cds_end": null,
"cds_length": 1033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447312.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.857-1426G>A",
"hgvs_p": null,
"transcript": "ENST00000857428.1",
"protein_id": "ENSP00000527487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.836-1426G>A",
"hgvs_p": null,
"transcript": "ENST00000857426.1",
"protein_id": "ENSP00000527485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.589-1709G>A",
"hgvs_p": null,
"transcript": "ENST00000934090.1",
"protein_id": "ENSP00000604149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934090.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "c.329-1426G>A",
"hgvs_p": null,
"transcript": "ENST00000449524.1",
"protein_id": "ENSP00000407614.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF3-AS1",
"gene_hgnc_id": 40211,
"hgvs_c": "n.1042C>T",
"hgvs_p": null,
"transcript": "ENST00000419190.2",
"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": "pseudogene",
"feature": "ENST00000419190.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "n.598G>A",
"hgvs_p": null,
"transcript": "ENST00000478617.5",
"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": "ENST00000478617.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"hgvs_c": "n.758G>A",
"hgvs_p": null,
"transcript": "ENST00000481780.5",
"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": "ENST00000481780.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RNPEP",
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"biotype": "nonsense_mediated_decay",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"gene_symbol": "RNPEP",
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"transcript": "ENST00000492849.5",
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"biotype": "pseudogene",
"feature": "ENST00000492849.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPEP",
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"aa_length": null,
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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492587.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF3-AS1",
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"hgvs_c": "n.*151C>T",
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"transcript": "ENST00000415582.1",
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"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415582.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "RNPEP",
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"hgvs_c": "n.*5G>A",
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"transcript": "ENST00000479726.5",
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"biotype": "pseudogene",
"feature": "ENST00000479726.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF3-AS1",
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"hgvs_c": "n.*141C>T",
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"transcript": "ENST00000719677.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000719677.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "ELF3-AS1",
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"hgvs_c": "n.*145C>T",
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"transcript": "ENST00000719678.1",
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"aa_length": null,
"cds_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000719678.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ELF3-AS1",
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"hgvs_c": "n.*101C>T",
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"transcript": "NR_146472.1",
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"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": "NR_146472.1"
}
],
"gene_symbol": "RNPEP",
"gene_hgnc_id": 10078,
"dbsnp": "rs202127308",
"frequency_reference_population": 0.00019767352,
"hom_count_reference_population": 0,
"allele_count_reference_population": 319,
"gnomad_exomes_af": 0.000210046,
"gnomad_genomes_af": 0.0000788488,
"gnomad_exomes_ac": 307,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05261874198913574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.1033,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.48,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020216.4",
"gene_symbol": "RNPEP",
"hgnc_id": 10078,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000419190.2",
"gene_symbol": "ELF3-AS1",
"hgnc_id": 40211,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1042C>T",
"hgvs_p": null
}
],
"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
}