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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: 6-10764491-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10764491&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10764491,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001242957.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Gly636Gly",
"transcript": "NM_001242957.3",
"protein_id": "NP_001229886.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 648,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354489.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242957.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Gly636Gly",
"transcript": "ENST00000354489.7",
"protein_id": "ENSP00000346484.3",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 648,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242957.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354489.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Gly611Gly",
"transcript": "ENST00000474039.5",
"protein_id": "ENSP00000476067.1",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 623,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474039.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gly571Gly",
"transcript": "ENST00000536370.6",
"protein_id": "ENSP00000442221.2",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 583,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536370.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.*564G>A",
"hgvs_p": null,
"transcript": "ENST00000538030.3",
"protein_id": "ENSP00000442250.1",
"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": "ENST00000538030.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.*564G>A",
"hgvs_p": null,
"transcript": "ENST00000538030.3",
"protein_id": "ENSP00000442250.1",
"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": "ENST00000538030.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.101-5586C>T",
"hgvs_p": null,
"transcript": "ENST00000463448.5",
"protein_id": "ENSP00000419208.1",
"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": "ENST00000463448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272162",
"gene_hgnc_id": null,
"hgvs_c": "n.100+14793C>T",
"hgvs_p": null,
"transcript": "ENST00000480294.1",
"protein_id": "ENSP00000417929.1",
"transcript_support_level": 2,
"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": "ENST00000480294.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Gly611Gly",
"transcript": "NM_005906.6",
"protein_id": "NP_005897.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 623,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005906.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Gly611Gly",
"transcript": "ENST00000313243.6",
"protein_id": "ENSP00000313021.2",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 623,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313243.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gly571Gly",
"transcript": "NM_001242385.2",
"protein_id": "NP_001229314.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 583,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242385.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1611G>A",
"hgvs_p": "p.Gly537Gly",
"transcript": "NM_001377262.1",
"protein_id": "NP_001364191.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 549,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377262.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1611G>A",
"hgvs_p": "p.Gly537Gly",
"transcript": "ENST00000676116.1",
"protein_id": "ENSP00000502045.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 549,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676116.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Gly636Gly",
"transcript": "XM_011514619.3",
"protein_id": "XP_011512921.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 648,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514619.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Gly636Gly",
"transcript": "XM_011514620.3",
"protein_id": "XP_011512922.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 648,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514620.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Gly571Gly",
"transcript": "XM_011514622.4",
"protein_id": "XP_011512924.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 583,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514622.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1128G>A",
"hgvs_p": "p.Gly376Gly",
"transcript": "XM_011514624.3",
"protein_id": "XP_011512926.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 388,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514624.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.*499G>A",
"hgvs_p": null,
"transcript": "ENST00000675026.1",
"protein_id": "ENSP00000502542.1",
"transcript_support_level": null,
"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": "ENST00000675026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.2204G>A",
"hgvs_p": null,
"transcript": "NR_134935.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_134935.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.2432G>A",
"hgvs_p": null,
"transcript": "NR_134936.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_134936.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.2337G>A",
"hgvs_p": null,
"transcript": "XR_926215.4",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_926215.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.*499G>A",
"hgvs_p": null,
"transcript": "ENST00000675026.1",
"protein_id": "ENSP00000502542.1",
"transcript_support_level": null,
"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": "ENST00000675026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
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{
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
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"gene_symbol": "TMEM14B",
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"transcript": "ENST00000467229.1",
"protein_id": "ENSP00000419731.1",
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},
{
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"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "TMEM14B",
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"transcript": "ENST00000473166.5",
"protein_id": "ENSP00000417416.1",
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{
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],
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"gene_symbol": "TMEM14B",
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"feature": "ENST00000473807.5"
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{
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],
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"gene_symbol": "TMEM14B",
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"transcript": "ENST00000478732.1",
"protein_id": "ENSP00000418927.1",
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],
"gene_symbol": "MAK",
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"dbsnp": "rs537862624",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
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"gnomad_genomes_af": 0.0000262712,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.091,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001242957.3",
"gene_symbol": "MAK",
"hgnc_id": 6816,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Gly636Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000480294.1",
"gene_symbol": "ENSG00000272162",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.100+14793C>T",
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},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000463448.5",
"gene_symbol": "TMEM14B",
"hgnc_id": 21384,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.101-5586C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}