← Back to variant description
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: 19-40744607-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40744607&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40744607,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001353809.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "NM_198476.5",
"protein_id": "NP_940878.3",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 351,
"cds_start": 469,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378313.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198476.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "ENST00000378313.7",
"protein_id": "ENSP00000367564.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 351,
"cds_start": 469,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198476.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378313.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"transcript": "ENST00000598352.1",
"protein_id": "ENSP00000473024.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 181,
"cds_start": 271,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598352.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "NM_001353809.2",
"protein_id": "NP_001340738.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 377,
"cds_start": 469,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353809.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "ENST00000862158.1",
"protein_id": "ENSP00000532217.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 353,
"cds_start": 469,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862158.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "ENST00000862156.1",
"protein_id": "ENSP00000532215.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 351,
"cds_start": 469,
"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": "ENST00000862156.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134Trp",
"transcript": "ENST00000862157.1",
"protein_id": "ENSP00000532216.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 328,
"cds_start": 400,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862157.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "NM_001353808.2",
"protein_id": "NP_001340737.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 239,
"cds_start": 55,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353808.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "NM_001353807.2",
"protein_id": "NP_001340736.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 213,
"cds_start": 55,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353807.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "NM_001353806.2",
"protein_id": "NP_001340735.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 195,
"cds_start": 469,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353806.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Met",
"transcript": "NM_001353805.2",
"protein_id": "NP_001340734.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 179,
"cds_start": 77,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353805.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Arg73Trp",
"transcript": "ENST00000596940.5",
"protein_id": "ENSP00000472820.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 111,
"cds_start": 217,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596940.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Met",
"transcript": "ENST00000598485.6",
"protein_id": "ENSP00000469330.2",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 67,
"cds_start": 77,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598485.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000470681.5",
"protein_id": "ENSP00000471114.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 57,
"cds_start": 55,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470681.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526774.4",
"protein_id": "XP_011525076.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 416,
"cds_start": 469,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526774.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526775.3",
"protein_id": "XP_011525077.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 416,
"cds_start": 469,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526775.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526776.4",
"protein_id": "XP_011525078.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 392,
"cds_start": 469,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526776.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_047438632.1",
"protein_id": "XP_047294588.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 377,
"cds_start": 469,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438632.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_047438633.1",
"protein_id": "XP_047294589.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 373,
"cds_start": 469,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438633.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526778.4",
"protein_id": "XP_011525080.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 353,
"cds_start": 469,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526778.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526779.4",
"protein_id": "XP_011525081.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 331,
"cds_start": 469,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526779.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_047438634.1",
"protein_id": "XP_047294590.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 311,
"cds_start": 469,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438634.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_005258776.6",
"protein_id": "XP_005258833.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 308,
"cds_start": 469,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258776.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_006723152.4",
"protein_id": "XP_006723215.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 308,
"cds_start": 469,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723152.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_006723153.4",
"protein_id": "XP_006723216.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 308,
"cds_start": 469,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723153.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526782.4",
"protein_id": "XP_011525084.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 305,
"cds_start": 469,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526782.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526783.4",
"protein_id": "XP_011525085.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 286,
"cds_start": 469,
"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": "XM_011526783.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "XM_011526784.4",
"protein_id": "XP_011525086.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 278,
"cds_start": 55,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526784.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_017026622.3",
"protein_id": "XP_016882111.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 263,
"cds_start": 469,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026622.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Met",
"transcript": "XM_011526785.4",
"protein_id": "XP_011525087.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 244,
"cds_start": 77,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526785.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_011526786.4",
"protein_id": "XP_011525088.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 243,
"cds_start": 469,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526786.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "XM_047438635.1",
"protein_id": "XP_047294591.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 209,
"cds_start": 469,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438635.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.55C>T",
"hgvs_p": null,
"transcript": "ENST00000469741.6",
"protein_id": "ENSP00000471589.1",
"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": "ENST00000469741.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.55C>T",
"hgvs_p": null,
"transcript": "ENST00000596809.5",
"protein_id": "ENSP00000469807.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000596809.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.55C>T",
"hgvs_p": null,
"transcript": "ENST00000597507.1",
"protein_id": "ENSP00000472022.1",
"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": "ENST00000597507.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.466C>T",
"hgvs_p": null,
"transcript": "NR_148548.2",
"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_148548.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.466C>T",
"hgvs_p": null,
"transcript": "NR_148549.2",
"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_148549.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.466C>T",
"hgvs_p": null,
"transcript": "NR_148550.2",
"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_148550.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"hgvs_c": "n.466C>T",
"hgvs_p": null,
"transcript": "NR_148551.2",
"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_148551.2"
}
],
"gene_symbol": "ACTMAP",
"gene_hgnc_id": 24758,
"dbsnp": "rs780245332",
"frequency_reference_population": 0.000031603606,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.000028052,
"gnomad_genomes_af": 0.000065716,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2923766076564789,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.58,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353809.2",
"gene_symbol": "ACTMAP",
"hgnc_id": 24758,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp"
}
],
"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
}