← Back to variant description
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: 5-34812192-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34812192&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34812192,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001145525.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "NM_015577.3",
"protein_id": "NP_056392.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000265109.8",
"protein_id": "ENSP00000265109.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"transcript": "ENST00000515799.5",
"protein_id": "ENSP00000427123.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 983,
"cds_start": 758,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000428746.6",
"protein_id": "ENSP00000388725.2",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "ENST00000506376.1",
"protein_id": "ENSP00000423854.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 725,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000512629.5",
"protein_id": "ENSP00000422377.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*532C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "n.*532C>T",
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"transcript": "NM_001145525.2",
"protein_id": "NP_001138997.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 983,
"cds_start": 758,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "NM_001145520.1",
"protein_id": "NP_001138992.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "NM_001145521.2",
"protein_id": "NP_001138993.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000503673.5",
"protein_id": "ENSP00000422942.1",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000957306.1",
"protein_id": "ENSP00000627365.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "NM_001145523.2",
"protein_id": "NP_001138995.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 725,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "NM_001145522.2",
"protein_id": "NP_001138994.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000902575.1",
"protein_id": "ENSP00000572634.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000902576.1",
"protein_id": "ENSP00000572635.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000957307.1",
"protein_id": "ENSP00000627366.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "ENST00000957308.1",
"protein_id": "ENSP00000627367.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Pro256Leu",
"transcript": "XM_011514016.3",
"protein_id": "XP_011512318.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 986,
"cds_start": 767,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514016.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_006714469.3",
"protein_id": "XP_006714532.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_006714469.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_011514017.3",
"protein_id": "XP_011512319.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_011514017.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_011514018.2",
"protein_id": "XP_011512320.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_011514018.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_011514019.2",
"protein_id": "XP_011512321.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_011514019.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_011514020.2",
"protein_id": "XP_011512322.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_011514020.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_011514021.3",
"protein_id": "XP_011512323.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_011514021.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_011514022.2",
"protein_id": "XP_011512324.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_011514022.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_047417088.1",
"protein_id": "XP_047273044.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_047417088.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_047417089.1",
"protein_id": "XP_047273045.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 980,
"cds_start": 749,
"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": "XM_047417089.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "XM_024446017.2",
"protein_id": "XP_024301785.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 725,
"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": "XM_024446017.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Pro256Leu",
"transcript": "XM_011514025.3",
"protein_id": "XP_011512327.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 957,
"cds_start": 767,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514025.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Pro252Leu",
"transcript": "XM_047417090.1",
"protein_id": "XP_047273046.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 953,
"cds_start": 755,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417090.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_017009335.2",
"protein_id": "XP_016864824.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "XM_017009335.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_047417091.1",
"protein_id": "XP_047273047.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "XM_047417091.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"transcript": "XM_047417092.1",
"protein_id": "XP_047273048.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 951,
"cds_start": 749,
"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": "XM_047417092.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Pro61Leu",
"transcript": "XM_047417093.1",
"protein_id": "XP_047273049.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 791,
"cds_start": 182,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417093.1"
}
],
"gene_symbol": "RAI14",
"gene_hgnc_id": 14873,
"dbsnp": "rs1294093591",
"frequency_reference_population": 6.9938284e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.99383e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19057893753051758,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.155,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145525.2",
"gene_symbol": "RAI14",
"hgnc_id": 14873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu"
}
],
"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
}