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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: 17-19381009-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19381009&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19381009,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002749.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "NM_002749.4",
"protein_id": "NP_002740.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": "ENST00000395604.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "ENST00000395604.8",
"protein_id": "ENSP00000378968.3",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": "NM_002749.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "ENST00000308406.9",
"protein_id": "ENSP00000311005.5",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "ENST00000395602.8",
"protein_id": "ENSP00000378966.4",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.383A>G",
"hgvs_p": "p.Tyr128Cys",
"transcript": "ENST00000299612.11",
"protein_id": "ENSP00000299612.7",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 677,
"cds_start": 383,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "NM_139033.3",
"protein_id": "NP_620602.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "NM_139034.3",
"protein_id": "NP_620603.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.383A>G",
"hgvs_p": "p.Tyr128Cys",
"transcript": "NM_139032.3",
"protein_id": "NP_620601.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 677,
"cds_start": 383,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.383A>G",
"hgvs_p": "p.Tyr128Cys",
"transcript": "ENST00000482850.1",
"protein_id": "ENSP00000458146.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 194,
"cds_start": 383,
"cds_end": null,
"cds_length": 587,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_006721557.4",
"protein_id": "XP_006721620.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 822,
"cds_start": 818,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_006721558.4",
"protein_id": "XP_006721621.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 822,
"cds_start": 818,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_006721559.4",
"protein_id": "XP_006721622.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 822,
"cds_start": 818,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_047436401.1",
"protein_id": "XP_047292357.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 822,
"cds_start": 818,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_047436402.1",
"protein_id": "XP_047292358.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 822,
"cds_start": 818,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Tyr273Cys",
"transcript": "XM_047436403.1",
"protein_id": "XP_047292359.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 822,
"cds_start": 818,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "XM_047436404.1",
"protein_id": "XP_047292360.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "XM_047436405.1",
"protein_id": "XP_047292361.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "XM_047436406.1",
"protein_id": "XP_047292362.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 816,
"cds_start": 800,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys",
"transcript": "XM_047436407.1",
"protein_id": "XP_047292363.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 766,
"cds_start": 800,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.383A>G",
"hgvs_p": "p.Tyr128Cys",
"transcript": "XM_011523957.4",
"protein_id": "XP_011522259.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 677,
"cds_start": 383,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2411,
"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": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "n.809A>G",
"hgvs_p": null,
"transcript": "ENST00000490660.2",
"protein_id": null,
"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": 2867,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "n.2481A>G",
"hgvs_p": null,
"transcript": "ENST00000570306.5",
"protein_id": null,
"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": 4533,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "n.672A>G",
"hgvs_p": null,
"transcript": "ENST00000572716.1",
"protein_id": null,
"transcript_support_level": 2,
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"cdna_start": null,
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"cdna_length": 776,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "MAPK7",
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"transcript": "ENST00000571657.5",
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"cds_end": null,
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"cdna_length": 699,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "MAPK7",
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"hgvs_c": "n.111-772A>G",
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"transcript": "ENST00000573417.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.*76A>G",
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"transcript": "ENST00000443215.5",
"protein_id": "ENSP00000412902.1",
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"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 850,
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"mane_plus": null,
"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,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "n.*570A>G",
"hgvs_p": null,
"transcript": "ENST00000581260.5",
"protein_id": "ENSP00000462804.2",
"transcript_support_level": 3,
"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": 773,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"dbsnp": "rs201779270",
"frequency_reference_population": 0.000007434557,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752476,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8115789890289307,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.646,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9588,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.281,
"phylop100way_prediction": "Uncertain_significance",
"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": "PP3,BS2_Supporting",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002749.4",
"gene_symbol": "MAPK7",
"hgnc_id": 6880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Tyr267Cys"
}
],
"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
}