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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: 18-46505863-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46505863&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46505863,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000642948.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5853G>A",
"hgvs_p": "p.Lys1951Lys",
"transcript": "NM_001384474.1",
"protein_id": "NP_001371403.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2273,
"cds_start": 5853,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 6040,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "ENST00000642948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5853G>A",
"hgvs_p": "p.Lys1951Lys",
"transcript": "ENST00000642948.1",
"protein_id": "ENSP00000496347.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2273,
"cds_start": 5853,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 6040,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "NM_001384474.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2520G>A",
"hgvs_p": "p.Lys840Lys",
"transcript": "ENST00000300591.11",
"protein_id": "ENSP00000300591.6",
"transcript_support_level": 1,
"aa_start": 840,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2520,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2232G>A",
"hgvs_p": "p.Lys744Lys",
"transcript": "ENST00000579038.6",
"protein_id": "ENSP00000463285.1",
"transcript_support_level": 1,
"aa_start": 744,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2232,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Lys190Lys",
"transcript": "ENST00000398686.8",
"protein_id": "ENSP00000381676.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 512,
"cds_start": 570,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5667G>A",
"hgvs_p": "p.Lys1889Lys",
"transcript": "NM_144612.7",
"protein_id": "NP_653213.6",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2211,
"cds_start": 5667,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 5854,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5667G>A",
"hgvs_p": "p.Lys1889Lys",
"transcript": "ENST00000536736.5",
"protein_id": "ENSP00000444586.1",
"transcript_support_level": 5,
"aa_start": 1889,
"aa_end": null,
"aa_length": 2211,
"cds_start": 5667,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 5667,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5235G>A",
"hgvs_p": "p.Lys1745Lys",
"transcript": "ENST00000441551.6",
"protein_id": "ENSP00000387621.2",
"transcript_support_level": 5,
"aa_start": 1745,
"aa_end": null,
"aa_length": 2067,
"cds_start": 5235,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2520G>A",
"hgvs_p": "p.Lys840Lys",
"transcript": "NM_001145472.3",
"protein_id": "NP_001138944.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2520,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2334G>A",
"hgvs_p": "p.Lys778Lys",
"transcript": "ENST00000582408.6",
"protein_id": "ENSP00000461964.1",
"transcript_support_level": 2,
"aa_start": 778,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2334,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2232G>A",
"hgvs_p": "p.Lys744Lys",
"transcript": "NM_001308013.2",
"protein_id": "NP_001294942.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2232,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Lys190Lys",
"transcript": "NM_001145473.3",
"protein_id": "NP_001138945.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 512,
"cds_start": 570,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Lys190Lys",
"transcript": "NM_001173129.2",
"protein_id": "NP_001166600.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 457,
"cds_start": 570,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Lys190Lys",
"transcript": "ENST00000398705.7",
"protein_id": "ENSP00000381692.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 457,
"cds_start": 570,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4809G>A",
"hgvs_p": "p.Lys1603Lys",
"transcript": "XM_047437289.1",
"protein_id": "XP_047293245.1",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1925,
"cds_start": 4809,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 4908,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5019G>A",
"hgvs_p": "p.Lys1673Lys",
"transcript": "XM_047437290.1",
"protein_id": "XP_047293246.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1768,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 5166,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5019G>A",
"hgvs_p": "p.Lys1673Lys",
"transcript": "XM_047437291.1",
"protein_id": "XP_047293247.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1765,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5298,
"cdna_start": 5166,
"cdna_end": null,
"cdna_length": 7090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5019G>A",
"hgvs_p": "p.Lys1673Lys",
"transcript": "XM_047437292.1",
"protein_id": "XP_047293248.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1741,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5166,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4014G>A",
"hgvs_p": "p.Lys1338Lys",
"transcript": "XM_011525804.3",
"protein_id": "XP_011524106.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1660,
"cds_start": 4014,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 4083,
"cdna_end": null,
"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Lys884Lys",
"transcript": "XM_006722388.4",
"protein_id": "XP_006722451.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2652,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Lys839Lys",
"transcript": "XM_024451085.2",
"protein_id": "XP_024306853.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2517,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2466G>A",
"hgvs_p": "p.Lys822Lys",
"transcript": "XM_006722391.4",
"protein_id": "XP_006722454.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
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"exon_count": 21,
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],
"gene_symbol": "LOXHD1",
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"dbsnp": "rs201366522",
"frequency_reference_population": 0.0005651844,
"hom_count_reference_population": 3,
"allele_count_reference_population": 877,
"gnomad_exomes_af": 0.000553077,
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"computational_score_selected": -0.2800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.41,
"phylop100way_prediction": "Benign",
"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,
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"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000642948.1",
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5853G>A",
"hgvs_p": "p.Lys1951Lys"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 77,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:1",
"phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 77",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}