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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: 2-237542658-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237542658&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237542658,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_024101.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "NM_024101.7",
"protein_id": "NP_077006.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 600,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264605.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024101.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000264605.8",
"protein_id": "ENSP00000264605.3",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 600,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024101.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264605.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Pro485Leu",
"transcript": "ENST00000338530.8",
"protein_id": "ENSP00000341845.4",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 572,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338530.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Pro393Leu",
"transcript": "ENST00000409373.5",
"protein_id": "ENSP00000386780.1",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 480,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1519C>T",
"hgvs_p": null,
"transcript": "ENST00000464123.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000464123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1665C>T",
"hgvs_p": null,
"transcript": "ENST00000468178.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000468178.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "ENST00000951150.1",
"protein_id": "ENSP00000621209.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 644,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951150.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Pro529Leu",
"transcript": "ENST00000872932.1",
"protein_id": "ENSP00000542991.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 616,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872932.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Pro529Leu",
"transcript": "ENST00000951143.1",
"protein_id": "ENSP00000621202.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 616,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951143.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1580C>T",
"hgvs_p": "p.Pro527Leu",
"transcript": "ENST00000951136.1",
"protein_id": "ENSP00000621195.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 614,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951136.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000872925.1",
"protein_id": "ENSP00000542984.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 600,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872925.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000951133.1",
"protein_id": "ENSP00000621192.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 600,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951133.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Pro501Leu",
"transcript": "ENST00000872934.1",
"protein_id": "ENSP00000542993.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 588,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872934.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Pro501Leu",
"transcript": "ENST00000951132.1",
"protein_id": "ENSP00000621191.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 588,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951132.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Pro499Leu",
"transcript": "ENST00000872935.1",
"protein_id": "ENSP00000542994.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 586,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872935.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1481C>T",
"hgvs_p": "p.Pro494Leu",
"transcript": "ENST00000951149.1",
"protein_id": "ENSP00000621208.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 581,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951149.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1466C>T",
"hgvs_p": "p.Pro489Leu",
"transcript": "ENST00000951140.1",
"protein_id": "ENSP00000621199.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 576,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951140.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1466C>T",
"hgvs_p": "p.Pro489Leu",
"transcript": "ENST00000951148.1",
"protein_id": "ENSP00000621207.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 576,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951148.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Pro485Leu",
"transcript": "NM_001042467.3",
"protein_id": "NP_001035932.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 572,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042467.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Pro485Leu",
"transcript": "ENST00000872928.1",
"protein_id": "ENSP00000542987.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 572,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872928.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Pro485Leu",
"transcript": "ENST00000872930.1",
"protein_id": "ENSP00000542989.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 572,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872930.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"splice_region_variant"
],
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"exon_count": 12,
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"biotype": "protein_coding",
"feature": "XM_047445812.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
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"exon_count": 11,
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"gene_symbol": "MLPH",
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"hgvs_c": "c.899C>T",
"hgvs_p": "p.Pro300Leu",
"transcript": "XM_047445813.1",
"protein_id": "XP_047301769.1",
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"aa_start": 300,
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"biotype": "protein_coding",
"feature": "XM_047445813.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 8,
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"gene_symbol": "MLPH",
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"hgvs_c": "n.332C>T",
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"transcript": "ENST00000432475.5",
"protein_id": "ENSP00000393010.1",
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"aa_end": null,
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"cds_length": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432475.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 9,
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"gene_symbol": "MLPH",
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"transcript": "ENST00000478712.5",
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"biotype": "retained_intron",
"feature": "ENST00000478712.5"
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{
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"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"gene_symbol": "MLPH",
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"hgvs_c": "n.1675C>T",
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"transcript": "ENST00000495439.5",
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"biotype": "retained_intron",
"feature": "ENST00000495439.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 17,
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"gene_symbol": "MLPH",
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"hgvs_c": "n.1749C>T",
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"transcript": "NR_104019.2",
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"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": "pseudogene",
"feature": "NR_104019.2"
}
],
"gene_symbol": "MLPH",
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"dbsnp": "rs369604551",
"frequency_reference_population": 0.000055536122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000507712,
"gnomad_genomes_af": 0.000101063,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3837015926837921,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.722000002861023,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.2846,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.658,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.984543308173771,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024101.7",
"gene_symbol": "MLPH",
"hgnc_id": 29643,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu"
}
],
"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
}