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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: 3-15074864-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15074864&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15074864,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022340.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "NM_022340.4",
"protein_id": "NP_071735.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253699.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022340.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000253699.7",
"protein_id": "ENSP00000253699.3",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022340.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253699.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Gly455Arg",
"transcript": "ENST00000945194.1",
"protein_id": "ENSP00000615253.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 814,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945194.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "NM_001302378.2",
"protein_id": "NP_001289307.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302378.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000476527.7",
"protein_id": "ENSP00000422551.1",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476527.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000905152.1",
"protein_id": "ENSP00000575211.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905152.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000938328.1",
"protein_id": "ENSP00000608387.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938328.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000938329.1",
"protein_id": "ENSP00000608388.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938329.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000938330.1",
"protein_id": "ENSP00000608389.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938330.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000938331.1",
"protein_id": "ENSP00000608390.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938331.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000938332.1",
"protein_id": "ENSP00000608391.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938332.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000945191.1",
"protein_id": "ENSP00000615250.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945191.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "ENST00000945193.1",
"protein_id": "ENSP00000615252.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945193.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"transcript": "ENST00000945190.1",
"protein_id": "ENSP00000615249.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 737,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945190.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"transcript": "ENST00000945192.1",
"protein_id": "ENSP00000615251.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 737,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945192.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "XM_005265384.5",
"protein_id": "XP_005265441.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265384.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "XM_005265385.5",
"protein_id": "XP_005265442.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265385.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "XM_017007023.2",
"protein_id": "XP_016862512.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007023.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "XM_047448706.1",
"protein_id": "XP_047304662.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448706.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg",
"transcript": "XM_047448707.1",
"protein_id": "XP_047304663.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 784,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448707.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Arg",
"transcript": "XM_011534001.3",
"protein_id": "XP_011532303.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 696,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534001.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBSN",
"gene_hgnc_id": 20759,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Gly240Arg",
"transcript": "XM_017007026.2",
"protein_id": "XP_016862515.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 599,
"cds_start": 718,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007026.2"
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 8,
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"gene_symbol": "RBSN",
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"hgvs_p": "p.Gly186Arg",
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"protein_id": "XP_047304664.1",
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"aa_start": 186,
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"cds_length": 1638,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047448708.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 9,
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"gene_symbol": "ENSG00000289750",
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"hgvs_c": "n.688G>A",
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"transcript": "ENST00000698784.1",
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"biotype": "pseudogene",
"feature": "ENST00000698784.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 17,
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"gene_symbol": "ENSG00000289750",
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"hgvs_c": "n.1884G>A",
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"biotype": "pseudogene",
"feature": "ENST00000698785.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000296046",
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"hgvs_c": "n.143+4305C>T",
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"biotype": "pseudogene",
"feature": "ENST00000735943.1"
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{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 8,
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"gene_symbol": "RBSN",
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"transcript": "ENST00000426541.1",
"protein_id": "ENSP00000403368.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426541.1"
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],
"gene_symbol": "RBSN",
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"dbsnp": "rs144008665",
"frequency_reference_population": 0.0052617164,
"hom_count_reference_population": 38,
"allele_count_reference_population": 8493,
"gnomad_exomes_af": 0.0053902,
"gnomad_genomes_af": 0.00402929,
"gnomad_exomes_ac": 7879,
"gnomad_genomes_ac": 614,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007553696632385254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.2995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.563,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022340.4",
"gene_symbol": "RBSN",
"hgnc_id": 20759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Gly425Arg"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000698784.1",
"gene_symbol": "ENSG00000289750",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.688G>A",
"hgvs_p": null
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000735943.1",
"gene_symbol": "ENSG00000296046",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.143+4305C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}