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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: 7-4784209-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=4784209&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 4784209,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014855.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_014855.3",
"protein_id": "NP_055670.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 807,
"cds_start": 628,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649063.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014855.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000649063.2",
"protein_id": "ENSP00000497815.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 807,
"cds_start": 628,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014855.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649063.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000865634.1",
"protein_id": "ENSP00000535693.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 832,
"cds_start": 628,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865634.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000865636.1",
"protein_id": "ENSP00000535695.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 830,
"cds_start": 628,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865636.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000963395.1",
"protein_id": "ENSP00000633454.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 821,
"cds_start": 628,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963395.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000963389.1",
"protein_id": "ENSP00000633448.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 816,
"cds_start": 628,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963389.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.790C>A",
"hgvs_p": "p.Pro264Thr",
"transcript": "ENST00000963390.1",
"protein_id": "ENSP00000633449.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 814,
"cds_start": 790,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963390.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000963393.1",
"protein_id": "ENSP00000633452.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 813,
"cds_start": 628,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963393.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000963396.1",
"protein_id": "ENSP00000633455.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 806,
"cds_start": 628,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963396.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000913390.1",
"protein_id": "ENSP00000583449.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 792,
"cds_start": 628,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913390.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000963391.1",
"protein_id": "ENSP00000633450.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 791,
"cds_start": 628,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963391.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000865635.1",
"protein_id": "ENSP00000535694.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 760,
"cds_start": 628,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865635.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.373C>A",
"hgvs_p": "p.Pro125Thr",
"transcript": "ENST00000963392.1",
"protein_id": "ENSP00000633451.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 722,
"cds_start": 373,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963392.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000865637.1",
"protein_id": "ENSP00000535696.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 691,
"cds_start": 628,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865637.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.160C>A",
"hgvs_p": "p.Pro54Thr",
"transcript": "NM_001364858.1",
"protein_id": "NP_001351787.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 651,
"cds_start": 160,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364858.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.292C>A",
"hgvs_p": "p.Pro98Thr",
"transcript": "XM_047421098.1",
"protein_id": "XP_047277054.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 695,
"cds_start": 292,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421098.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.366+2455C>A",
"hgvs_p": null,
"transcript": "ENST00000963394.1",
"protein_id": "ENSP00000633453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.386C>A",
"hgvs_p": null,
"transcript": "ENST00000477680.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.483C>A",
"hgvs_p": null,
"transcript": "ENST00000491375.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.456C>A",
"hgvs_p": null,
"transcript": "ENST00000496303.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496303.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.119C>A",
"hgvs_p": null,
"transcript": "ENST00000647628.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000647628.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.441C>A",
"hgvs_p": null,
"transcript": "ENST00000647984.1",
"protein_id": "ENSP00000497794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647984.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
"exon_rank": 6,
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"gene_symbol": "AP5Z1",
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"transcript": "ENST00000648925.1",
"protein_id": "ENSP00000496830.1",
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"mane_select": null,
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},
{
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"canonical": false,
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"strand": true,
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],
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"gene_symbol": "AP5Z1",
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"transcript": "ENST00000650310.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650310.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "AP5Z1",
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"hgvs_c": "n.186C>A",
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"transcript": "ENST00000650451.1",
"protein_id": "ENSP00000496998.1",
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"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": "ENST00000650451.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.721C>A",
"hgvs_p": null,
"transcript": "NR_157345.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157345.1"
}
],
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"dbsnp": "rs773542837",
"frequency_reference_population": 7.000928e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.00093e-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": 0.7091323733329773,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.657,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014855.3",
"gene_symbol": "AP5Z1",
"hgnc_id": 22197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 48",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary spastic paraplegia 48",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}