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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: 1-150558029-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150558029&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150558029,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000271643.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "NM_019032.6",
"protein_id": "NP_061905.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": "ENST00000271643.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "ENST00000271643.9",
"protein_id": "ENSP00000271643.4",
"transcript_support_level": 5,
"aa_start": 757,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": "NM_019032.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "ENST00000369038.6",
"protein_id": "ENSP00000358034.2",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "NM_001288608.2",
"protein_id": "NP_001275537.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2339,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "ENST00000369039.9",
"protein_id": "ENSP00000358035.5",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2339,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "ENST00000674043.1",
"protein_id": "ENSP00000501295.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2339,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "NM_001378596.1",
"protein_id": "NP_001365525.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2153delG",
"hgvs_p": "p.Gly718fs",
"transcript": "NM_001288607.2",
"protein_id": "NP_001275536.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2153delG",
"hgvs_p": "p.Gly718fs",
"transcript": "ENST00000674058.1",
"protein_id": "ENSP00000501255.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "NM_025008.5",
"protein_id": "NP_079284.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 877,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "ENST00000369041.9",
"protein_id": "ENSP00000358037.5",
"transcript_support_level": 5,
"aa_start": 757,
"aa_end": null,
"aa_length": 877,
"cds_start": 2270,
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"cds_length": 2634,
"cdna_start": 2520,
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"cdna_length": 2908,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2438delG",
"hgvs_p": "p.Gly813fs",
"transcript": "XM_011509644.4",
"protein_id": "XP_011507946.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2438,
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"cdna_start": 2607,
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"cdna_length": 4299,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2369delG",
"hgvs_p": "p.Gly790fs",
"transcript": "XM_047422819.1",
"protein_id": "XP_047278775.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2369,
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"cdna_start": 3197,
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"cdna_length": 4893,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "XM_011509648.4",
"protein_id": "XP_011507950.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "XM_017001506.3",
"protein_id": "XP_016856995.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2339,
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"cdna_start": 2970,
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"cdna_length": 4666,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "XM_047422820.1",
"protein_id": "XP_047278776.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "XM_047422823.1",
"protein_id": "XP_047278779.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
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"cds_start": 2339,
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"cdna_start": 4179,
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"cdna_length": 5875,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2339delG",
"hgvs_p": "p.Gly780fs",
"transcript": "XM_047422824.1",
"protein_id": "XP_047278780.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2339,
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"cdna_start": 4314,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "XM_047422830.1",
"protein_id": "XP_047278786.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs",
"transcript": "XM_047422832.1",
"protein_id": "XP_047278788.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
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"intron_rank": null,
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"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2438delG",
"hgvs_p": "p.Gly813fs",
"transcript": "XM_011509649.4",
"protein_id": "XP_011507951.1",
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"aa_start": 813,
"aa_end": null,
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"cds_start": 2438,
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"cdna_start": 2618,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2438delG",
"hgvs_p": "p.Gly813fs",
"transcript": "XM_011509650.4",
"protein_id": "XP_011507952.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 863,
"cds_start": 2438,
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"cds_length": 2592,
"cdna_start": 2617,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.2438delG",
"hgvs_p": "p.Gly813fs",
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"aa_start": 813,
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"aa_length": 861,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
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"hgvs_c": "c.2369delG",
"hgvs_p": "p.Gly790fs",
"transcript": "XM_047422842.1",
"protein_id": "XP_047278798.1",
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"aa_length": 840,
"cds_start": 2369,
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"cds_length": 2523,
"cdna_start": 2545,
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"cdna_length": 3166,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ADAMTSL4",
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"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs",
"transcript": "XM_011509651.3",
"protein_id": "XP_011507953.1",
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"cds_length": 1902,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"strand": true,
"consequences": [
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],
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"exon_count": 13,
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"gene_symbol": "ADAMTSL4",
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"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs",
"transcript": "XM_011509652.3",
"protein_id": "XP_011507954.1",
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"aa_start": 316,
"aa_end": null,
"aa_length": 633,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "n.-224delG",
"hgvs_p": null,
"transcript": "ENST00000489159.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"dbsnp": "rs747160538",
"frequency_reference_population": 0.000040955325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000404149,
"gnomad_genomes_af": 0.0000461571,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 7,
"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,
"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": 3.916,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000271643.9",
"gene_symbol": "ADAMTSL4",
"hgnc_id": 19706,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2270delG",
"hgvs_p": "p.Gly757fs"
}
],
"clinvar_disease": " autosomal recessive, isolated,Craniosynostosis with ectopia lentis,Ectopia lentis 2,Ectopia lentis et pupillae,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:3",
"phenotype_combined": "Ectopia lentis et pupillae|Ectopia lentis 2, isolated, autosomal recessive|Craniosynostosis with ectopia lentis|Ectopia lentis et pupillae;Ectopia lentis 2, isolated, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}