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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: 17-63837200-G-GAGGTAGAACCTTATCTGCCATCTTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63837200&ref=G&alt=GAGGTAGAACCTTATCTGCCATCTTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63837200,
"ref": "G",
"alt": "GAGGTAGAACCTTATCTGCCATCTTC",
"effect": "frameshift_variant,stop_gained",
"transcript": "NM_001098426.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.414_438dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln147fs",
"transcript": "NM_001098426.2",
"protein_id": "NP_001091896.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 531,
"cds_start": 438,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448276.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098426.2"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.414_438dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln147fs",
"transcript": "ENST00000448276.7",
"protein_id": "ENSP00000392617.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 531,
"cds_start": 438,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098426.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448276.7"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.189_213dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln72fs",
"transcript": "ENST00000225742.13",
"protein_id": "ENSP00000225742.9",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 456,
"cds_start": 213,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225742.13"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.414_438dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln147fs",
"transcript": "ENST00000934855.1",
"protein_id": "ENSP00000604914.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 560,
"cds_start": 438,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934855.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.405_429dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln144fs",
"transcript": "ENST00000934857.1",
"protein_id": "ENSP00000604916.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 528,
"cds_start": 429,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934857.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.414_438dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln147fs",
"transcript": "ENST00000934856.1",
"protein_id": "ENSP00000604915.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 523,
"cds_start": 438,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934856.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.366_390dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln131fs",
"transcript": "ENST00000869923.1",
"protein_id": "ENSP00000539982.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 515,
"cds_start": 390,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869923.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.273_297dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln100fs",
"transcript": "ENST00000698016.1",
"protein_id": "ENSP00000513502.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 484,
"cds_start": 297,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698016.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.270_294dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln99fs",
"transcript": "NM_001330440.2",
"protein_id": "NP_001317369.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 483,
"cds_start": 294,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330440.2"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.270_294dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln99fs",
"transcript": "ENST00000323347.14",
"protein_id": "ENSP00000318451.10",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 483,
"cds_start": 294,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323347.14"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.414_438dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln147fs",
"transcript": "ENST00000869924.1",
"protein_id": "ENSP00000539983.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 479,
"cds_start": 438,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869924.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.231_255dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln86fs",
"transcript": "ENST00000698022.1",
"protein_id": "ENSP00000513504.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 477,
"cds_start": 255,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698022.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.189_213dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln72fs",
"transcript": "NM_001330439.1",
"protein_id": "NP_001317368.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 456,
"cds_start": 213,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330439.1"
},
{
"aa_ref": "P",
"aa_alt": "PEDGR*GST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.273_297dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln100fs",
"transcript": "ENST00000698027.1",
"protein_id": "ENSP00000513505.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 438,
"cds_start": 297,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698027.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.217-181_217-157dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000934859.1",
"protein_id": "ENSP00000604918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.264+353_264+377dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000934858.1",
"protein_id": "ENSP00000604917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "c.217-1658_217-1634dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000952069.1",
"protein_id": "ENSP00000622128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "n.65_89dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000577686.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000577686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "n.198_222dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000580054.1",
"protein_id": "ENSP00000463793.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000580054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "n.229_*10dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000584400.5",
"protein_id": "ENSP00000464503.1",
"transcript_support_level": 3,
"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": "ENST00000584400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "n.505_529dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000697953.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
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{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": 2,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SMARCD2",
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"transcript": "ENST00000698015.1",
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"biotype": "retained_intron",
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},
{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SMARCD2",
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"hgvs_c": "n.203_227dupGAAGATGGCAGATAAGGTTCTACCT",
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"transcript": "ENST00000698020.1",
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},
{
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"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "n.75_99dupGAAGATGGCAGATAAGGTTCTACCT",
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"transcript": "ENST00000698021.1",
"protein_id": "ENSP00000513503.1",
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698021.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"hgvs_c": "n.229_*10dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": null,
"transcript": "ENST00000584400.5",
"protein_id": "ENSP00000464503.1",
"transcript_support_level": 3,
"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": "ENST00000584400.5"
}
],
"gene_symbol": "SMARCD2",
"gene_hgnc_id": 11107,
"dbsnp": "rs1555580263",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.57,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001098426.2",
"gene_symbol": "SMARCD2",
"hgnc_id": 11107,
"effects": [
"frameshift_variant",
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.414_438dupGAAGATGGCAGATAAGGTTCTACCT",
"hgvs_p": "p.Gln147fs"
}
],
"clinvar_disease": "Autosomal recessive severe congenital neutropenia,Specific granule deficiency 1,Specific granule deficiency 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Specific granule deficiency 1;Autosomal recessive severe congenital neutropenia|Specific granule deficiency 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}