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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: 1-46562657-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46562657&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46562657,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135553.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "NM_001135553.4",
"protein_id": "NP_001129025.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 412,
"cds_start": 796,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "ENST00000371945.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "ENST00000371945.10",
"protein_id": "ENSP00000361013.5",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 412,
"cds_start": 796,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "NM_001135553.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Met",
"transcript": "ENST00000371946.9",
"protein_id": "ENSP00000361014.5",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 453,
"cds_start": 919,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.822G>A",
"hgvs_p": null,
"transcript": "ENST00000342571.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.*563G>A",
"hgvs_p": null,
"transcript": "ENST00000531355.6",
"protein_id": "ENSP00000434493.2",
"transcript_support_level": 1,
"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": 1121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.*563G>A",
"hgvs_p": null,
"transcript": "ENST00000531355.6",
"protein_id": "ENSP00000434493.2",
"transcript_support_level": 1,
"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": 1121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Met",
"transcript": "ENST00000649800.1",
"protein_id": "ENSP00000498083.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 465,
"cds_start": 955,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Met",
"transcript": "NM_003684.7",
"protein_id": "NP_003675.3",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 453,
"cds_start": 919,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Met",
"transcript": "ENST00000650508.1",
"protein_id": "ENSP00000498143.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 424,
"cds_start": 832,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "NM_001377337.1",
"protein_id": "NP_001364266.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 418,
"cds_start": 814,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "NM_001377338.1",
"protein_id": "NP_001364267.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 418,
"cds_start": 814,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "NM_001377373.1",
"protein_id": "NP_001364302.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 412,
"cds_start": 796,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Met",
"transcript": "ENST00000650026.1",
"protein_id": "ENSP00000497380.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 347,
"cds_start": 832,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "NM_001377341.1",
"protein_id": "NP_001364270.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 341,
"cds_start": 814,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "NM_001377342.1",
"protein_id": "NP_001364271.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 341,
"cds_start": 814,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "NM_001377374.1",
"protein_id": "NP_001364303.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 335,
"cds_start": 796,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "NM_001377375.1",
"protein_id": "NP_001364304.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 335,
"cds_start": 796,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "NM_198973.5",
"protein_id": "NP_945324.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 335,
"cds_start": 796,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "ENST00000428112.7",
"protein_id": "ENSP00000411135.3",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 335,
"cds_start": 796,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "ENST00000341183.9",
"protein_id": "ENSP00000339573.6",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 329,
"cds_start": 547,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Met",
"transcript": "NM_001377343.1",
"protein_id": "NP_001364272.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 292,
"cds_start": 667,
"cds_end": null,
"cds_length": 879,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000524749.5",
"protein_id": "ENSP00000435069.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 84,
"cds_start": 208,
"cds_end": null,
"cds_length": 255,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Val281Met",
"transcript": "XM_047433022.1",
"protein_id": "XP_047288978.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MKNK1-AS1",
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"hgvs_c": "n.515-855C>T",
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"transcript": "NR_038403.1",
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"transcript_support_level": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2445,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
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"hgvs_c": "n.*92G>A",
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"transcript": "ENST00000460098.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 337,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
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"hgvs_c": "n.*42G>A",
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"transcript": "ENST00000524417.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_end": null,
"cdna_length": 531,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.*411G>A",
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"transcript": "XM_047433081.1",
"protein_id": "XP_047289037.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1003,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"dbsnp": "rs1365121686",
"frequency_reference_population": 7.1395016e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.1395e-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": 0.11465540528297424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.1185,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.87,
"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,
"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_001135553.4",
"gene_symbol": "MKNK1",
"hgnc_id": 7110,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Val266Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000602433.1",
"gene_symbol": "MKNK1-AS1",
"hgnc_id": 44129,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.515-855C>T",
"hgvs_p": null
}
],
"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
}