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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: 5-34807851-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34807851&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34807851,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001145525.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "NM_015577.3",
"protein_id": "NP_056392.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265109.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015577.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000265109.8",
"protein_id": "ENSP00000265109.3",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015577.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265109.8"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.382T>C",
"hgvs_p": "p.Tyr128His",
"transcript": "ENST00000515799.5",
"protein_id": "ENSP00000427123.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 983,
"cds_start": 382,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515799.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000428746.6",
"protein_id": "ENSP00000388725.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428746.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000506376.1",
"protein_id": "ENSP00000423854.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 972,
"cds_start": 349,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506376.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000512629.5",
"protein_id": "ENSP00000422377.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 951,
"cds_start": 373,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512629.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*156T>C",
"hgvs_p": null,
"transcript": "ENST00000508777.5",
"protein_id": "ENSP00000423965.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508777.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*156T>C",
"hgvs_p": null,
"transcript": "ENST00000508777.5",
"protein_id": "ENSP00000423965.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508777.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.382T>C",
"hgvs_p": "p.Tyr128His",
"transcript": "NM_001145525.2",
"protein_id": "NP_001138997.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 983,
"cds_start": 382,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145525.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "NM_001145520.1",
"protein_id": "NP_001138992.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145520.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "NM_001145521.2",
"protein_id": "NP_001138993.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145521.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000503673.5",
"protein_id": "ENSP00000422942.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503673.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000957306.1",
"protein_id": "ENSP00000627365.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 980,
"cds_start": 373,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957306.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "NM_001145523.2",
"protein_id": "NP_001138995.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 972,
"cds_start": 349,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145523.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "NM_001145522.2",
"protein_id": "NP_001138994.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 951,
"cds_start": 373,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145522.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000902575.1",
"protein_id": "ENSP00000572634.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 951,
"cds_start": 373,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902575.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000902576.1",
"protein_id": "ENSP00000572635.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 951,
"cds_start": 373,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902576.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000957307.1",
"protein_id": "ENSP00000627366.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 951,
"cds_start": 373,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957307.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000957308.1",
"protein_id": "ENSP00000627367.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 951,
"cds_start": 373,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957308.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000512625.5",
"protein_id": "ENSP00000425115.1",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 149,
"cds_start": 373,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512625.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000514527.5",
"protein_id": "ENSP00000424879.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 138,
"cds_start": 373,
"cds_end": null,
"cds_length": 418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514527.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000513974.5",
"protein_id": "ENSP00000422112.1",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 125,
"cds_start": 373,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513974.5"
},
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"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*218T>C",
"hgvs_p": null,
"transcript": "ENST00000510319.5",
"protein_id": "ENSP00000424507.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000510319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*218T>C",
"hgvs_p": null,
"transcript": "ENST00000503222.5",
"protein_id": "ENSP00000425929.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000503222.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*218T>C",
"hgvs_p": null,
"transcript": "ENST00000510319.5",
"protein_id": "ENSP00000424507.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000510319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.*31T>C",
"hgvs_p": null,
"transcript": "ENST00000504052.5",
"protein_id": "ENSP00000422515.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504052.5"
}
],
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"dbsnp": "rs754745101",
"frequency_reference_population": 0.00011609657,
"hom_count_reference_population": 2,
"allele_count_reference_population": 187,
"gnomad_exomes_af": 0.000125481,
"gnomad_genomes_af": 0.0000262571,
"gnomad_exomes_ac": 183,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24194005131721497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.186,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.559,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001145525.2",
"gene_symbol": "RAI14",
"hgnc_id": 14873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.382T>C",
"hgvs_p": "p.Tyr128His"
}
],
"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
}