← 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: 6-39901304-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39901304&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 39901304,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001201427.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "NM_001201427.2",
"protein_id": "NP_001188356.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274867.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201427.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "ENST00000274867.9",
"protein_id": "ENSP00000274867.4",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201427.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274867.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2811C>A",
"hgvs_p": "p.Phe937Leu",
"transcript": "ENST00000538976.5",
"protein_id": "ENSP00000437808.1",
"transcript_support_level": 1,
"aa_start": 937,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2811,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "n.3509C>A",
"hgvs_p": null,
"transcript": "ENST00000631498.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000631498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MOCS1",
"gene_hgnc_id": 7190,
"hgvs_c": "n.*116-1429G>T",
"hgvs_p": null,
"transcript": "ENST00000373181.8",
"protein_id": "ENSP00000362277.4",
"transcript_support_level": 1,
"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": "ENST00000373181.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "ENST00000633794.1",
"protein_id": "ENSP00000488831.1",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633794.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "ENST00000853742.1",
"protein_id": "ENSP00000523801.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853742.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "ENST00000853743.1",
"protein_id": "ENSP00000523802.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853743.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "ENST00000853744.1",
"protein_id": "ENSP00000523803.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853744.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2835C>A",
"hgvs_p": "p.Phe945Leu",
"transcript": "ENST00000853741.1",
"protein_id": "ENSP00000523800.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2835,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853741.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "ENST00000398904.6",
"protein_id": "ENSP00000381876.2",
"transcript_support_level": 5,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398904.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "ENST00000853736.1",
"protein_id": "ENSP00000523795.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853736.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "ENST00000853745.1",
"protein_id": "ENSP00000523804.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853745.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "ENST00000924855.1",
"protein_id": "ENSP00000594914.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924855.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "ENST00000961720.1",
"protein_id": "ENSP00000631779.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961720.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2811C>A",
"hgvs_p": "p.Phe937Leu",
"transcript": "NM_015345.4",
"protein_id": "NP_056160.2",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2811,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015345.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Phe936Leu",
"transcript": "ENST00000853740.1",
"protein_id": "ENSP00000523799.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853740.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2733C>A",
"hgvs_p": "p.Phe911Leu",
"transcript": "ENST00000853739.1",
"protein_id": "ENSP00000523798.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2733,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853739.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2706C>A",
"hgvs_p": "p.Phe902Leu",
"transcript": "ENST00000853738.1",
"protein_id": "ENSP00000523797.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2706,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853738.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2682C>A",
"hgvs_p": "p.Phe894Leu",
"transcript": "ENST00000961719.1",
"protein_id": "ENSP00000631778.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2682,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961719.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2514C>A",
"hgvs_p": "p.Phe838Leu",
"transcript": "ENST00000961718.1",
"protein_id": "ENSP00000631777.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 968,
"cds_start": 2514,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961718.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.3138C>A",
"hgvs_p": "p.Phe1046Leu",
"transcript": "XM_006715039.4",
"protein_id": "XP_006715102.3",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3138,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715039.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.3111C>A",
"hgvs_p": "p.Phe1037Leu",
"transcript": "XM_006715040.4",
"protein_id": "XP_006715103.3",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3111,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715040.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.3066C>A",
"hgvs_p": "p.Phe1022Leu",
"transcript": "XM_047418531.1",
"protein_id": "XP_047274487.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418531.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.3039C>A",
"hgvs_p": "p.Phe1013Leu",
"transcript": "XM_047418532.1",
"protein_id": "XP_047274488.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3039,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418532.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2994C>A",
"hgvs_p": "p.Phe998Leu",
"transcript": "XM_047418533.1",
"protein_id": "XP_047274489.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418533.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2967C>A",
"hgvs_p": "p.Phe989Leu",
"transcript": "XM_047418534.1",
"protein_id": "XP_047274490.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2967,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418534.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2910C>A",
"hgvs_p": "p.Phe970Leu",
"transcript": "XM_017010630.2",
"protein_id": "XP_016866119.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010630.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_006715043.3",
"protein_id": "XP_006715106.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715043.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_006715045.4",
"protein_id": "XP_006715108.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715045.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_006715046.5",
"protein_id": "XP_006715109.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715046.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_047418535.1",
"protein_id": "XP_047274491.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418535.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_047418536.1",
"protein_id": "XP_047274492.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418536.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_047418537.1",
"protein_id": "XP_047274493.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418537.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_047418538.1",
"protein_id": "XP_047274494.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418538.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_047418539.1",
"protein_id": "XP_047274495.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418539.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2841C>A",
"hgvs_p": "p.Phe947Leu",
"transcript": "XM_047418540.1",
"protein_id": "XP_047274496.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418540.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu",
"transcript": "XM_047418541.1",
"protein_id": "XP_047274497.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418541.1"
},
{
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"hgvs_c": "c.2812-85C>A",
"hgvs_p": null,
"transcript": "ENST00000853737.1",
"protein_id": "ENSP00000523796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1039,
"cds_start": null,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853737.1"
}
],
"gene_symbol": "DAAM2",
"gene_hgnc_id": 18143,
"dbsnp": "rs148294935",
"frequency_reference_population": 6.847045e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84705e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7809983491897583,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.9587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.794,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001201427.2",
"gene_symbol": "DAAM2",
"hgnc_id": 18143,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2814C>A",
"hgvs_p": "p.Phe938Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373181.8",
"gene_symbol": "MOCS1",
"hgnc_id": 7190,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*116-1429G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}