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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: 19-4090603-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4090603&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4090603,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030662.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1198G>T",
"hgvs_p": "p.Val400Leu",
"transcript": "NM_030662.4",
"protein_id": "NP_109587.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 400,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262948.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030662.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1198G>T",
"hgvs_p": "p.Val400Leu",
"transcript": "ENST00000262948.10",
"protein_id": "ENSP00000262948.4",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 400,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030662.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262948.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1387G>T",
"hgvs_p": "p.Val463Leu",
"transcript": "ENST00000945862.1",
"protein_id": "ENSP00000615921.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 463,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945862.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1357G>T",
"hgvs_p": "p.Val453Leu",
"transcript": "ENST00000897166.1",
"protein_id": "ENSP00000567225.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 453,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897166.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1348G>T",
"hgvs_p": "p.Val450Leu",
"transcript": "ENST00000897161.1",
"protein_id": "ENSP00000567220.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 450,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897161.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1339G>T",
"hgvs_p": "p.Val447Leu",
"transcript": "ENST00000945861.1",
"protein_id": "ENSP00000615920.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 447,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945861.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1279G>T",
"hgvs_p": "p.Val427Leu",
"transcript": "ENST00000945859.1",
"protein_id": "ENSP00000615918.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 427,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945859.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Val419Leu",
"transcript": "ENST00000897160.1",
"protein_id": "ENSP00000567219.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 419,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897160.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1237G>T",
"hgvs_p": "p.Val413Leu",
"transcript": "ENST00000920059.1",
"protein_id": "ENSP00000590118.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 413,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920059.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Leu",
"transcript": "ENST00000920057.1",
"protein_id": "ENSP00000590116.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 395,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920057.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1162G>T",
"hgvs_p": "p.Val388Leu",
"transcript": "ENST00000897162.1",
"protein_id": "ENSP00000567221.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 388,
"cds_start": 1162,
"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": "ENST00000897162.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1153G>T",
"hgvs_p": "p.Val385Leu",
"transcript": "ENST00000920058.1",
"protein_id": "ENSP00000590117.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 385,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920058.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1135G>T",
"hgvs_p": "p.Val379Leu",
"transcript": "ENST00000897163.1",
"protein_id": "ENSP00000567222.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 379,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897163.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1090G>T",
"hgvs_p": "p.Val364Leu",
"transcript": "ENST00000897164.1",
"protein_id": "ENSP00000567223.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 364,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897164.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1051G>T",
"hgvs_p": "p.Val351Leu",
"transcript": "ENST00000897165.1",
"protein_id": "ENSP00000567224.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 351,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897165.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Val307Leu",
"transcript": "NM_001440688.1",
"protein_id": "NP_001427617.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 307,
"cds_start": 919,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440688.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "ENST00000945860.1",
"protein_id": "ENSP00000615919.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 286,
"cds_start": 856,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945860.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Val210Leu",
"transcript": "NM_001440689.1",
"protein_id": "NP_001427618.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 210,
"cds_start": 628,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440689.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Val103Leu",
"transcript": "ENST00000599021.1",
"protein_id": "ENSP00000471763.1",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 103,
"cds_start": 307,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.1637G>T",
"hgvs_p": null,
"transcript": "ENST00000394867.9",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000394867.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.383G>T",
"hgvs_p": null,
"transcript": "ENST00000597263.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000597263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.2647G>T",
"hgvs_p": null,
"transcript": "ENST00000600584.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000600584.5"
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{
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"strand": false,
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],
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"exon_count": 8,
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{
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],
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"exon_count": 4,
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"biotype": "retained_intron",
"feature": "ENST00000688002.1"
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{
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"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "MAP2K2",
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"transcript": "ENST00000688751.1",
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"biotype": "pseudogene",
"feature": "ENST00000688751.1"
},
{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "MAP2K2",
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"hgvs_c": "n.1102G>T",
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"transcript": "ENST00000689792.1",
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"biotype": "pseudogene",
"feature": "ENST00000689792.1"
}
],
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"dbsnp": "rs533247725",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.108239084482193,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.0893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.587,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_030662.4",
"gene_symbol": "MAP2K2",
"hgnc_id": 6842,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1198G>T",
"hgvs_p": "p.Val400Leu"
}
],
"clinvar_disease": "Cardiofaciocutaneous syndrome 4,Cardiovascular phenotype",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Cardiovascular phenotype|Cardiofaciocutaneous syndrome 4",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}