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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: 14-53061182-GTTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53061182&ref=GTTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53061182,
"ref": "GTTC",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001160148.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1783_1785delGAA",
"hgvs_p": "p.Glu595del",
"transcript": "NM_001160148.2",
"protein_id": "NP_001153620.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 900,
"cds_start": 1783,
"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": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1783_1785delGAA",
"hgvs_p": "p.Glu595del",
"transcript": "ENST00000673822.2",
"protein_id": "ENSP00000500986.2",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 900,
"cds_start": 1783,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1783_1785delGAA",
"hgvs_p": "p.Glu595del",
"transcript": "ENST00000357758.3",
"protein_id": "ENSP00000350401.3",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 872,
"cds_start": 1783,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "n.2374_2376delGAA",
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1906_1908delGAA",
"hgvs_p": "p.Glu636del",
"transcript": "ENST00000907176.1",
"protein_id": "ENSP00000577235.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 941,
"cds_start": 1906,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1885_1887delGAA",
"hgvs_p": "p.Glu629del",
"transcript": "ENST00000907173.1",
"protein_id": "ENSP00000577232.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 934,
"cds_start": 1885,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1906_1908delGAA",
"hgvs_p": "p.Glu636del",
"transcript": "ENST00000907174.1",
"protein_id": "ENSP00000577233.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1906,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1804_1806delGAA",
"hgvs_p": "p.Glu602del",
"transcript": "ENST00000907175.1",
"protein_id": "ENSP00000577234.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 907,
"cds_start": 1804,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1885_1887delGAA",
"hgvs_p": "p.Glu629del",
"transcript": "ENST00000921203.1",
"protein_id": "ENSP00000591262.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 887,
"cds_start": 1885,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1804_1806delGAA",
"hgvs_p": "p.Glu602del",
"transcript": "NM_001160147.2",
"protein_id": "NP_001153619.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 879,
"cds_start": 1804,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1804_1806delGAA",
"hgvs_p": "p.Glu602del",
"transcript": "ENST00000395606.5",
"protein_id": "ENSP00000378970.1",
"transcript_support_level": 2,
"aa_start": 602,
"aa_end": null,
"aa_length": 879,
"cds_start": 1804,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1783_1785delGAA",
"hgvs_p": "p.Glu595del",
"transcript": "NM_030637.3",
"protein_id": "NP_085140.2",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 872,
"cds_start": 1783,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1654_1656delGAA",
"hgvs_p": "p.Glu552del",
"transcript": "ENST00000907177.1",
"protein_id": "ENSP00000577236.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 857,
"cds_start": 1654,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1654_1656delGAA",
"hgvs_p": "p.Glu552del",
"transcript": "ENST00000907172.1",
"protein_id": "ENSP00000577231.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 829,
"cds_start": 1654,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1192_1194delGAA",
"hgvs_p": "p.Glu398del",
"transcript": "ENST00000323669.10",
"protein_id": "ENSP00000327104.6",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 675,
"cds_start": 1192,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1321_1323delGAA",
"hgvs_p": "p.Glu441del",
"transcript": "ENST00000673930.1",
"protein_id": "ENSP00000501087.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 668,
"cds_start": 1321,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.559_561delGAA",
"hgvs_p": "p.Glu187del",
"transcript": "ENST00000674152.1",
"protein_id": "ENSP00000500978.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 456,
"cds_start": 559,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1906_1908delGAA",
"hgvs_p": "p.Glu636del",
"transcript": "XM_011537188.3",
"protein_id": "XP_011535490.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 941,
"cds_start": 1906,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1885_1887delGAA",
"hgvs_p": "p.Glu629del",
"transcript": "XM_005268102.3",
"protein_id": "XP_005268159.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 934,
"cds_start": 1885,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1906_1908delGAA",
"hgvs_p": "p.Glu636del",
"transcript": "XM_011537189.3",
"protein_id": "XP_011535491.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1906,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1804_1806delGAA",
"hgvs_p": "p.Glu602del",
"transcript": "XM_005268103.3",
"protein_id": "XP_005268160.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 907,
"cds_start": 1804,
"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": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"hgvs_c": "c.1885_1887delGAA",
"hgvs_p": "p.Glu629del",
"transcript": "XM_017021668.2",
"protein_id": "XP_016877157.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
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{
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{
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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{
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],
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{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674014.1"
},
{
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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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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674014.1"
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],
"gene_symbol": "DDHD1",
"gene_hgnc_id": 19714,
"dbsnp": "rs772636180",
"frequency_reference_population": 0.00017132855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 276,
"gnomad_exomes_af": 0.000177549,
"gnomad_genomes_af": 0.000111707,
"gnomad_exomes_ac": 259,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.424,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001160148.2",
"gene_symbol": "DDHD1",
"hgnc_id": 19714,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1783_1785delGAA",
"hgvs_p": "p.Glu595del"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 28,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary spastic paraplegia 28|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}