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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: 1-6219310-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6219310&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6219310,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_207396.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Gly603Ala",
"transcript": "NM_207396.3",
"protein_id": "NP_997279.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 634,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377939.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207396.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Gly603Ala",
"transcript": "ENST00000377939.5",
"protein_id": "ENSP00000367173.4",
"transcript_support_level": 5,
"aa_start": 603,
"aa_end": null,
"aa_length": 634,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207396.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377939.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.2069G>C",
"hgvs_p": "p.Gly690Ala",
"transcript": "ENST00000951272.1",
"protein_id": "ENSP00000621331.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 721,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951272.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1892G>C",
"hgvs_p": "p.Gly631Ala",
"transcript": "ENST00000882099.1",
"protein_id": "ENSP00000552158.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 662,
"cds_start": 1892,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882099.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1874G>C",
"hgvs_p": "p.Gly625Ala",
"transcript": "ENST00000882098.1",
"protein_id": "ENSP00000552157.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 656,
"cds_start": 1874,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882098.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1874G>C",
"hgvs_p": "p.Gly625Ala",
"transcript": "ENST00000882100.1",
"protein_id": "ENSP00000552159.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 656,
"cds_start": 1874,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882100.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1865G>C",
"hgvs_p": "p.Gly622Ala",
"transcript": "ENST00000951264.1",
"protein_id": "ENSP00000621323.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 653,
"cds_start": 1865,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951264.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1826G>C",
"hgvs_p": "p.Gly609Ala",
"transcript": "ENST00000882101.1",
"protein_id": "ENSP00000552160.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 640,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882101.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1826G>C",
"hgvs_p": "p.Gly609Ala",
"transcript": "ENST00000951271.1",
"protein_id": "ENSP00000621330.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 640,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951271.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Gly603Ala",
"transcript": "ENST00000882102.1",
"protein_id": "ENSP00000552161.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 634,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882102.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Gly603Ala",
"transcript": "ENST00000951270.1",
"protein_id": "ENSP00000621329.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 634,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951270.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000951267.1",
"protein_id": "ENSP00000621326.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 633,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951267.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1769G>C",
"hgvs_p": "p.Gly590Ala",
"transcript": "ENST00000951273.1",
"protein_id": "ENSP00000621332.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 621,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951273.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1739G>C",
"hgvs_p": "p.Gly580Ala",
"transcript": "ENST00000882103.1",
"protein_id": "ENSP00000552162.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 611,
"cds_start": 1739,
"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": "ENST00000882103.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1739G>C",
"hgvs_p": "p.Gly580Ala",
"transcript": "ENST00000951266.1",
"protein_id": "ENSP00000621325.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 611,
"cds_start": 1739,
"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": "ENST00000951266.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1730G>C",
"hgvs_p": "p.Gly577Ala",
"transcript": "ENST00000951268.1",
"protein_id": "ENSP00000621327.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 608,
"cds_start": 1730,
"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": "ENST00000951268.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1568G>C",
"hgvs_p": "p.Gly523Ala",
"transcript": "ENST00000922640.1",
"protein_id": "ENSP00000592699.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 554,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922640.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1517G>C",
"hgvs_p": "p.Gly506Ala",
"transcript": "ENST00000882104.1",
"protein_id": "ENSP00000552163.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882104.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1472G>C",
"hgvs_p": "p.Gly491Ala",
"transcript": "ENST00000951265.1",
"protein_id": "ENSP00000621324.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 522,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951265.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Gly485Ala",
"transcript": "ENST00000951269.1",
"protein_id": "ENSP00000621328.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 516,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951269.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1874G>C",
"hgvs_p": "p.Gly625Ala",
"transcript": "XM_047420021.1",
"protein_id": "XP_047275977.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 656,
"cds_start": 1874,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420021.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1469G>C",
"hgvs_p": "p.Gly490Ala",
"transcript": "XM_047420010.1",
"protein_id": "XP_047275966.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 521,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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"biotype": "pseudogene",
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{
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"non_coding_transcript_exon_variant"
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"biotype": "retained_intron",
"feature": "ENST00000496676.5"
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],
"gene_symbol": "RNF207",
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"dbsnp": "rs846111",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00446927547454834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0747,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.117,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_207396.3",
"gene_symbol": "RNF207",
"hgnc_id": 32947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Gly603Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}