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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: 14-53046822-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53046822&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53046822,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001160148.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Phe883Phe",
"transcript": "NM_001160148.2",
"protein_id": "NP_001153620.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 900,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673822.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160148.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Phe883Phe",
"transcript": "ENST00000673822.2",
"protein_id": "ENSP00000500986.2",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 900,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160148.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673822.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Phe855Phe",
"transcript": "ENST00000357758.3",
"protein_id": "ENSP00000350401.3",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 872,
"cds_start": 2565,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357758.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.3156C>T",
"hgvs_p": null,
"transcript": "ENST00000556027.5",
"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": "ENST00000556027.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2772C>T",
"hgvs_p": "p.Phe924Phe",
"transcript": "ENST00000907176.1",
"protein_id": "ENSP00000577235.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 941,
"cds_start": 2772,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907176.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2751C>T",
"hgvs_p": "p.Phe917Phe",
"transcript": "ENST00000907173.1",
"protein_id": "ENSP00000577232.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 934,
"cds_start": 2751,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907173.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2688C>T",
"hgvs_p": "p.Phe896Phe",
"transcript": "ENST00000907174.1",
"protein_id": "ENSP00000577233.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 913,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907174.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2670C>T",
"hgvs_p": "p.Phe890Phe",
"transcript": "ENST00000907175.1",
"protein_id": "ENSP00000577234.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 907,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907175.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"transcript": "ENST00000921203.1",
"protein_id": "ENSP00000591262.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 887,
"cds_start": 2610,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921203.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2586C>T",
"hgvs_p": "p.Phe862Phe",
"transcript": "NM_001160147.2",
"protein_id": "NP_001153619.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 879,
"cds_start": 2586,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160147.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2586C>T",
"hgvs_p": "p.Phe862Phe",
"transcript": "ENST00000395606.5",
"protein_id": "ENSP00000378970.1",
"transcript_support_level": 2,
"aa_start": 862,
"aa_end": null,
"aa_length": 879,
"cds_start": 2586,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395606.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Phe855Phe",
"transcript": "NM_030637.3",
"protein_id": "NP_085140.2",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 872,
"cds_start": 2565,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030637.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2520C>T",
"hgvs_p": "p.Phe840Phe",
"transcript": "ENST00000907177.1",
"protein_id": "ENSP00000577236.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 857,
"cds_start": 2520,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907177.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Phe812Phe",
"transcript": "ENST00000907172.1",
"protein_id": "ENSP00000577231.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 829,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907172.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1974C>T",
"hgvs_p": "p.Phe658Phe",
"transcript": "ENST00000323669.10",
"protein_id": "ENSP00000327104.6",
"transcript_support_level": 2,
"aa_start": 658,
"aa_end": null,
"aa_length": 675,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323669.10"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1953C>T",
"hgvs_p": "p.Phe651Phe",
"transcript": "ENST00000673930.1",
"protein_id": "ENSP00000501087.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 668,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673930.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Phe447Phe",
"transcript": "ENST00000674152.1",
"protein_id": "ENSP00000500978.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 456,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674152.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2772C>T",
"hgvs_p": "p.Phe924Phe",
"transcript": "XM_011537188.3",
"protein_id": "XP_011535490.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 941,
"cds_start": 2772,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537188.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2751C>T",
"hgvs_p": "p.Phe917Phe",
"transcript": "XM_005268102.3",
"protein_id": "XP_005268159.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 934,
"cds_start": 2751,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268102.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2688C>T",
"hgvs_p": "p.Phe896Phe",
"transcript": "XM_011537189.3",
"protein_id": "XP_011535491.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 913,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537189.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2670C>T",
"hgvs_p": "p.Phe890Phe",
"transcript": "XM_005268103.3",
"protein_id": "XP_005268160.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 907,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268103.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2667C>T",
"hgvs_p": "p.Phe889Phe",
"transcript": "XM_017021668.2",
"protein_id": "XP_016877157.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 906,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
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{
"aa_ref": "F",
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"protein_coding": true,
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],
"exon_rank": 12,
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"exon_count": 12,
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"feature": "XM_005268105.3"
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{
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"consequences": [
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],
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"exon_count": 11,
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"gene_symbol": "DDHD1",
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"hgvs_c": "c.2436C>T",
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"protein_id": "XP_016877158.1",
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"biotype": "protein_coding",
"feature": "XM_017021669.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "DDHD1",
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{
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"gene_symbol": "DDHD1",
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"biotype": "nonsense_mediated_decay",
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{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "DDHD1",
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"transcript": "ENST00000674014.1",
"protein_id": "ENSP00000501105.1",
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674014.1"
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],
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"dbsnp": "rs374202355",
"frequency_reference_population": 0.0000117826685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000123231,
"gnomad_genomes_af": 0.00000658493,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.865,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -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_001160148.2",
"gene_symbol": "DDHD1",
"hgnc_id": 19714,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Phe883Phe"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 28,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Hereditary spastic paraplegia 28",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}