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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: 15-66485167-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66485167&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66485167,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002755.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Arg291Gly",
"transcript": "NM_002755.4",
"protein_id": "NP_002746.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 393,
"cds_start": 871,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307102.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002755.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Arg291Gly",
"transcript": "ENST00000307102.10",
"protein_id": "ENSP00000302486.5",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 393,
"cds_start": 871,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002755.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307102.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Arg291Gly",
"transcript": "ENST00000685172.1",
"protein_id": "ENSP00000509604.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 417,
"cds_start": 871,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685172.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.922A>G",
"hgvs_p": "p.Arg308Gly",
"transcript": "ENST00000689951.1",
"protein_id": "ENSP00000509308.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 410,
"cds_start": 922,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689951.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Arg269Gly",
"transcript": "ENST00000692683.1",
"protein_id": "ENSP00000508437.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 371,
"cds_start": 805,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692683.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Arg265Gly",
"transcript": "ENST00000901531.1",
"protein_id": "ENSP00000571590.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 367,
"cds_start": 793,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901531.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.757A>G",
"hgvs_p": "p.Arg253Gly",
"transcript": "ENST00000901534.1",
"protein_id": "ENSP00000571593.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 355,
"cds_start": 757,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901534.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "ENST00000691576.1",
"protein_id": "ENSP00000510066.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 350,
"cds_start": 742,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691576.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Arg244Gly",
"transcript": "ENST00000901533.1",
"protein_id": "ENSP00000571592.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 346,
"cds_start": 730,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901533.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "NM_001411065.1",
"protein_id": "NP_001397994.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 345,
"cds_start": 727,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411065.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "ENST00000693150.1",
"protein_id": "ENSP00000510309.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 345,
"cds_start": 727,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693150.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Arg242Gly",
"transcript": "ENST00000685763.1",
"protein_id": "ENSP00000509016.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 344,
"cds_start": 724,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685763.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000920480.1",
"protein_id": "ENSP00000590539.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 318,
"cds_start": 646,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920480.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Arg291Gly",
"transcript": "ENST00000691937.1",
"protein_id": "ENSP00000508768.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 317,
"cds_start": 871,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691937.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.343A>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000566326.1",
"protein_id": "ENSP00000456438.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 217,
"cds_start": 343,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566326.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Arg269Gly",
"transcript": "XM_011521783.4",
"protein_id": "XP_011520085.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 371,
"cds_start": 805,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521783.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Arg265Gly",
"transcript": "XM_017022411.3",
"protein_id": "XP_016877900.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 367,
"cds_start": 793,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022411.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.693+3288A>G",
"hgvs_p": null,
"transcript": "ENST00000901532.1",
"protein_id": "ENSP00000571591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.569-2061A>G",
"hgvs_p": null,
"transcript": "ENST00000686347.1",
"protein_id": "ENSP00000509027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": null,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.491-2061A>G",
"hgvs_p": null,
"transcript": "ENST00000920479.1",
"protein_id": "ENSP00000590538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.1229A>G",
"hgvs_p": null,
"transcript": "ENST00000687191.1",
"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": "retained_intron",
"feature": "ENST00000687191.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.286A>G",
"hgvs_p": null,
"transcript": "ENST00000687481.1",
"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": "retained_intron",
"feature": "ENST00000687481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
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"hgvs_c": "n.*108A>G",
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"transcript": "ENST00000691077.1",
"protein_id": "ENSP00000509843.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691077.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "MAP2K1",
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"hgvs_c": "n.*108A>G",
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"transcript": "ENST00000692487.1",
"protein_id": "ENSP00000509534.1",
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"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
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"hgvs_c": "n.*108A>G",
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"transcript": "ENST00000691077.1",
"protein_id": "ENSP00000509843.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691077.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
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"hgvs_c": "n.*108A>G",
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"transcript": "ENST00000692487.1",
"protein_id": "ENSP00000509534.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692487.1"
},
{
"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": 10,
"intron_rank": 6,
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"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.628-2061A>G",
"hgvs_p": null,
"transcript": "ENST00000684779.1",
"protein_id": "ENSP00000508681.1",
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"aa_end": null,
"aa_length": null,
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"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": "ENST00000684779.1"
}
],
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"dbsnp": "rs747807884",
"frequency_reference_population": 0.0000074357736,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000684156,
"gnomad_genomes_af": 0.0000131437,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16128116846084595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.307,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2766,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.147,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002755.4",
"gene_symbol": "MAP2K1",
"hgnc_id": 6840,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Arg291Gly"
}
],
"clinvar_disease": "Cardiovascular phenotype,RASopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "RASopathy|Cardiovascular phenotype|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}