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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: 1-6218354-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6218354&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6218354,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_207396.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser",
"transcript": "NM_207396.3",
"protein_id": "NP_997279.2",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 634,
"cds_start": 1718,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser",
"transcript": "ENST00000377939.5",
"protein_id": "ENSP00000367173.4",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 634,
"cds_start": 1718,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.Asn660Ser",
"transcript": "ENST00000951272.1",
"protein_id": "ENSP00000621331.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 721,
"cds_start": 1979,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Asn601Ser",
"transcript": "ENST00000882099.1",
"protein_id": "ENSP00000552158.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 662,
"cds_start": 1802,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1784A>G",
"hgvs_p": "p.Asn595Ser",
"transcript": "ENST00000882098.1",
"protein_id": "ENSP00000552157.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 656,
"cds_start": 1784,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1784A>G",
"hgvs_p": "p.Asn595Ser",
"transcript": "ENST00000882100.1",
"protein_id": "ENSP00000552159.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 656,
"cds_start": 1784,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1775A>G",
"hgvs_p": "p.Asn592Ser",
"transcript": "ENST00000951264.1",
"protein_id": "ENSP00000621323.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Asn579Ser",
"transcript": "ENST00000882101.1",
"protein_id": "ENSP00000552160.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 640,
"cds_start": 1736,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Asn579Ser",
"transcript": "ENST00000951271.1",
"protein_id": "ENSP00000621330.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 640,
"cds_start": 1736,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser",
"transcript": "ENST00000882102.1",
"protein_id": "ENSP00000552161.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 634,
"cds_start": 1718,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser",
"transcript": "ENST00000951270.1",
"protein_id": "ENSP00000621329.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 634,
"cds_start": 1718,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Asn572Ser",
"transcript": "ENST00000951267.1",
"protein_id": "ENSP00000621326.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 633,
"cds_start": 1715,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1679A>G",
"hgvs_p": "p.Asn560Ser",
"transcript": "ENST00000951273.1",
"protein_id": "ENSP00000621332.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 621,
"cds_start": 1679,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Asn550Ser",
"transcript": "ENST00000882103.1",
"protein_id": "ENSP00000552162.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 611,
"cds_start": 1649,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Asn550Ser",
"transcript": "ENST00000951266.1",
"protein_id": "ENSP00000621325.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 611,
"cds_start": 1649,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1640A>G",
"hgvs_p": "p.Asn547Ser",
"transcript": "ENST00000951268.1",
"protein_id": "ENSP00000621327.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 608,
"cds_start": 1640,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asn493Ser",
"transcript": "ENST00000922640.1",
"protein_id": "ENSP00000592699.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 554,
"cds_start": 1478,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1427A>G",
"hgvs_p": "p.Asn476Ser",
"transcript": "ENST00000882104.1",
"protein_id": "ENSP00000552163.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 537,
"cds_start": 1427,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1382A>G",
"hgvs_p": "p.Asn461Ser",
"transcript": "ENST00000951265.1",
"protein_id": "ENSP00000621324.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 522,
"cds_start": 1382,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Asn455Ser",
"transcript": "ENST00000951269.1",
"protein_id": "ENSP00000621328.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 516,
"cds_start": 1364,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1784A>G",
"hgvs_p": "p.Asn595Ser",
"transcript": "XM_047420021.1",
"protein_id": "XP_047275977.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 656,
"cds_start": 1784,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "c.1379A>G",
"hgvs_p": "p.Asn460Ser",
"transcript": "XM_047420010.1",
"protein_id": "XP_047275966.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 521,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420010.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
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"hgvs_c": "c.1313A>G",
"hgvs_p": "p.Asn438Ser",
"transcript": "XM_011541439.4",
"protein_id": "XP_011539741.2",
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"aa_start": 438,
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"aa_length": 499,
"cds_start": 1313,
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"cds_length": 1500,
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"biotype": "protein_coding",
"feature": "XM_011541439.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF207",
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"hgvs_c": "n.350A>G",
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"transcript": "ENST00000483336.1",
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"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000483336.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 10,
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"gene_symbol": "RNF207",
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"hgvs_c": "n.1435A>G",
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"transcript": "ENST00000496676.5",
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"biotype": "retained_intron",
"feature": "ENST00000496676.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 16,
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"gene_symbol": "RNF207",
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"hgvs_c": "n.1849A>G",
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"transcript": "XR_002956484.2",
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"biotype": "pseudogene",
"feature": "XR_002956484.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"hgvs_c": "n.1783A>G",
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"transcript": "XR_002956486.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"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_002956486.2"
}
],
"gene_symbol": "RNF207",
"gene_hgnc_id": 32947,
"dbsnp": "rs709209",
"frequency_reference_population": 0.35752752,
"hom_count_reference_population": 109978,
"allele_count_reference_population": 576004,
"gnomad_exomes_af": 0.349242,
"gnomad_genomes_af": 0.43699,
"gnomad_exomes_ac": 509530,
"gnomad_genomes_ac": 66474,
"gnomad_exomes_homalt": 93124,
"gnomad_genomes_homalt": 16854,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000025483464014541823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.052,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.309,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_207396.3",
"gene_symbol": "RNF207",
"hgnc_id": 32947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}