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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: 14-53054467-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53054467&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53054467,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001160148.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2408A>T",
"hgvs_p": "p.His803Leu",
"transcript": "NM_001160148.2",
"protein_id": "NP_001153620.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 900,
"cds_start": 2408,
"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": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2408A>T",
"hgvs_p": "p.His803Leu",
"transcript": "ENST00000673822.2",
"protein_id": "ENSP00000500986.2",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 900,
"cds_start": 2408,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2408A>T",
"hgvs_p": "p.His803Leu",
"transcript": "ENST00000357758.3",
"protein_id": "ENSP00000350401.3",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 872,
"cds_start": 2408,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.2999A>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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2531A>T",
"hgvs_p": "p.His844Leu",
"transcript": "ENST00000907176.1",
"protein_id": "ENSP00000577235.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 941,
"cds_start": 2531,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2510A>T",
"hgvs_p": "p.His837Leu",
"transcript": "ENST00000907173.1",
"protein_id": "ENSP00000577232.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 934,
"cds_start": 2510,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2531A>T",
"hgvs_p": "p.His844Leu",
"transcript": "ENST00000907174.1",
"protein_id": "ENSP00000577233.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 913,
"cds_start": 2531,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2429A>T",
"hgvs_p": "p.His810Leu",
"transcript": "ENST00000907175.1",
"protein_id": "ENSP00000577234.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 907,
"cds_start": 2429,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2453A>T",
"hgvs_p": "p.His818Leu",
"transcript": "ENST00000921203.1",
"protein_id": "ENSP00000591262.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 887,
"cds_start": 2453,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2429A>T",
"hgvs_p": "p.His810Leu",
"transcript": "NM_001160147.2",
"protein_id": "NP_001153619.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 879,
"cds_start": 2429,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2429A>T",
"hgvs_p": "p.His810Leu",
"transcript": "ENST00000395606.5",
"protein_id": "ENSP00000378970.1",
"transcript_support_level": 2,
"aa_start": 810,
"aa_end": null,
"aa_length": 879,
"cds_start": 2429,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2408A>T",
"hgvs_p": "p.His803Leu",
"transcript": "NM_030637.3",
"protein_id": "NP_085140.2",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 872,
"cds_start": 2408,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2279A>T",
"hgvs_p": "p.His760Leu",
"transcript": "ENST00000907177.1",
"protein_id": "ENSP00000577236.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 857,
"cds_start": 2279,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2279A>T",
"hgvs_p": "p.His760Leu",
"transcript": "ENST00000907172.1",
"protein_id": "ENSP00000577231.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 829,
"cds_start": 2279,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1817A>T",
"hgvs_p": "p.His606Leu",
"transcript": "ENST00000323669.10",
"protein_id": "ENSP00000327104.6",
"transcript_support_level": 2,
"aa_start": 606,
"aa_end": null,
"aa_length": 675,
"cds_start": 1817,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1796A>T",
"hgvs_p": "p.His599Leu",
"transcript": "ENST00000673930.1",
"protein_id": "ENSP00000501087.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 668,
"cds_start": 1796,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1184A>T",
"hgvs_p": "p.His395Leu",
"transcript": "ENST00000674152.1",
"protein_id": "ENSP00000500978.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 456,
"cds_start": 1184,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2531A>T",
"hgvs_p": "p.His844Leu",
"transcript": "XM_011537188.3",
"protein_id": "XP_011535490.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 941,
"cds_start": 2531,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2510A>T",
"hgvs_p": "p.His837Leu",
"transcript": "XM_005268102.3",
"protein_id": "XP_005268159.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 934,
"cds_start": 2510,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2531A>T",
"hgvs_p": "p.His844Leu",
"transcript": "XM_011537189.3",
"protein_id": "XP_011535491.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 913,
"cds_start": 2531,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2429A>T",
"hgvs_p": "p.His810Leu",
"transcript": "XM_005268103.3",
"protein_id": "XP_005268160.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 907,
"cds_start": 2429,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.2510A>T",
"hgvs_p": "p.His837Leu",
"transcript": "XM_017021668.2",
"protein_id": "XP_016877157.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 906,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"biotype": "protein_coding",
"feature": "XM_005268105.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 11,
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"hgvs_p": "p.His760Leu",
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"protein_id": "XP_016877158.1",
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"feature": "XM_017021669.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"hgvs_c": "n.765A>T",
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"transcript": "ENST00000555400.1",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555400.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"feature": "ENST00000673827.1"
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{
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],
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"gene_symbol": "DDHD1",
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"hgvs_c": "n.*808A>T",
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"transcript": "ENST00000674014.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674014.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "DDHD1",
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"hgvs_c": "n.*808A>T",
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"transcript": "ENST00000674014.1",
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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": "ENST00000674014.1"
}
],
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"dbsnp": "rs144016130",
"frequency_reference_population": 0.000004337309,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000041048,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14109453558921814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.1157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.529,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001160148.2",
"gene_symbol": "DDHD1",
"hgnc_id": 19714,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2408A>T",
"hgvs_p": "p.His803Leu"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 28,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Inborn genetic diseases|Hereditary spastic paraplegia 28",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}