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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: 11-73825731-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=73825731&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 73825731,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000310614.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000411840.6",
"protein_id": "ENSP00000399076.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "NM_016055.6",
"protein_id": "NP_057139.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 212,
"cds_start": 136,
"cds_end": null,
"cds_length": 639,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": "ENST00000310614.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000310614.12",
"protein_id": "ENSP00000308717.7",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 212,
"cds_start": 136,
"cds_end": null,
"cds_length": 639,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": "NM_016055.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000411840.6",
"protein_id": "ENSP00000399076.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000398483.7",
"protein_id": "ENSP00000381497.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000535277.5",
"protein_id": "ENSP00000439573.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": -4,
"cds_end": null,
"cds_length": 79,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000537007.5",
"protein_id": "ENSP00000446144.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 12,
"cds_start": -4,
"cds_end": null,
"cds_length": 39,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-283C>T",
"hgvs_p": null,
"transcript": "ENST00000497094.6",
"protein_id": "ENSP00000439632.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": -4,
"cds_end": null,
"cds_length": 32,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "NM_001318499.2",
"protein_id": "NP_001305428.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 253,
"cds_start": 259,
"cds_end": null,
"cds_length": 762,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Trp",
"transcript": "NM_001318498.2",
"protein_id": "NP_001305427.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 194,
"cds_start": 82,
"cds_end": null,
"cds_length": 585,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "NM_001318500.2",
"protein_id": "NP_001305429.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 121,
"cds_start": 136,
"cds_end": null,
"cds_length": 366,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000542303.5",
"protein_id": "ENSP00000443685.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 121,
"cds_start": 136,
"cds_end": null,
"cds_length": 366,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "XM_047427121.1",
"protein_id": "XP_047283077.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 202,
"cds_start": 106,
"cds_end": null,
"cds_length": 609,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.*68C>T",
"hgvs_p": null,
"transcript": "ENST00000508278.6",
"protein_id": "ENSP00000445111.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000540162.5",
"protein_id": "ENSP00000441925.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.67C>T",
"hgvs_p": null,
"transcript": "ENST00000543374.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.98C>T",
"hgvs_p": null,
"transcript": "ENST00000544140.5",
"protein_id": "ENSP00000444441.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.98C>T",
"hgvs_p": null,
"transcript": "ENST00000544819.5",
"protein_id": "ENSP00000442146.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "NR_134658.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.487C>T",
"hgvs_p": null,
"transcript": "NR_134659.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "n.352C>T",
"hgvs_p": null,
"transcript": "NR_134660.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000398483.7",
"protein_id": "ENSP00000381497.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"hgvs_c": "c.-162C>T",
"hgvs_p": null,
"transcript": "ENST00000535277.5",
"protein_id": "ENSP00000439573.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": -4,
"cds_end": null,
"cds_length": 79,
"cdna_start": null,
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},
{
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},
{
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},
{
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},
{
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"3_prime_UTR_variant"
],
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},
{
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"consequences": [
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],
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"gene_symbol": "MRPL48",
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},
{
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"intron_variant"
],
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"gene_symbol": "MRPL48",
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"hgvs_c": "n.210+17381C>T",
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"transcript": "NR_134661.2",
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"feature": null
}
],
"gene_symbol": "MRPL48",
"gene_hgnc_id": 16653,
"dbsnp": "rs367770806",
"frequency_reference_population": 0.000008939495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000778015,
"gnomad_genomes_af": 0.000019707,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8994746804237366,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.572,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.015,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000310614.12",
"gene_symbol": "MRPL48",
"hgnc_id": 16653,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp"
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],
"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
}