← Back to variant description
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: 11-64804438-GCTTGATGGCGCTCGAGTTGAT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64804438&ref=GCTTGATGGCGCTCGAGTTGAT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64804438,
"ref": "GCTTGATGGCGCTCGAGTTGAT",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000450708.7",
"consequences": [
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "NM_001370259.2",
"protein_id": "NP_001357188.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "ENST00000450708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000450708.7",
"protein_id": "ENSP00000394933.3",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "NM_001370259.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000312049.11",
"protein_id": "ENSP00000308975.6",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000424912.2",
"protein_id": "ENSP00000388016.2",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000429702.6",
"protein_id": "ENSP00000402752.2",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1603_1623delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile535_Lys541del",
"transcript": "ENST00000377321.5",
"protein_id": "ENSP00000366538.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1849_1869delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile617_Lys623del",
"transcript": "NM_001407150.1",
"protein_id": "NP_001394079.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 657,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1834_1854delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile612_Lys618del",
"transcript": "NM_001370251.2",
"protein_id": "NP_001357180.2",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 652,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1834_1854delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile612_Lys618del",
"transcript": "NM_001407142.1",
"protein_id": "NP_001394071.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 652,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1834_1854delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile612_Lys618del",
"transcript": "NM_001407143.1",
"protein_id": "NP_001394072.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 652,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1834_1854delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile612_Lys618del",
"transcript": "NM_001407144.1",
"protein_id": "NP_001394073.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 652,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1834_1854delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile612_Lys618del",
"transcript": "ENST00000672304.1",
"protein_id": "ENSP00000500585.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 652,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1729_1749delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile577_Lys583del",
"transcript": "NM_001407151.1",
"protein_id": "NP_001394080.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 617,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_000244.4",
"protein_id": "NP_000235.3",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_001407145.1",
"protein_id": "NP_001394074.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_130800.3",
"protein_id": "NP_570712.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_130801.3",
"protein_id": "NP_570713.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_130802.3",
"protein_id": "NP_570714.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_130803.3",
"protein_id": "NP_570715.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "NM_130804.3",
"protein_id": "NP_570716.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "ENST00000377313.7",
"protein_id": "ENSP00000366530.1",
"transcript_support_level": 2,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1723_1743delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile575_Lys581del",
"transcript": "ENST00000710881.1",
"protein_id": "ENSP00000518530.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 615,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "NM_001370260.2",
"protein_id": "NP_001357189.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "NM_001370261.2",
"protein_id": "NP_001357190.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "NM_001407146.1",
"protein_id": "NP_001394075.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "NM_001407147.1",
"protein_id": "NP_001394076.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "NM_130799.3",
"protein_id": "NP_570711.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000315422.9",
"protein_id": "ENSP00000323747.4",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000377326.7",
"protein_id": "ENSP00000366543.3",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000413626.2",
"protein_id": "ENSP00000411218.2",
"transcript_support_level": 3,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del",
"transcript": "ENST00000440873.6",
"protein_id": "ENSP00000413944.2",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 610,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1699_1719delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile567_Lys573del",
"transcript": "ENST00000394376.7",
"protein_id": "ENSP00000377901.3",
"transcript_support_level": 5,
"aa_start": 567,
"aa_end": null,
"aa_length": 607,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1603_1623delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile535_Lys541del",
"transcript": "NM_001370262.2",
"protein_id": "NP_001357191.2",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1603_1623delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile535_Lys541del",
"transcript": "NM_001370263.2",
"protein_id": "NP_001357192.2",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1603_1623delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile535_Lys541del",
"transcript": "NM_001407148.1",
"protein_id": "NP_001394077.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1603_1623delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile535_Lys541del",
"transcript": "NM_001407149.1",
"protein_id": "NP_001394078.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1543_1563delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile515_Lys521del",
"transcript": "NM_001407152.1",
"protein_id": "NP_001394081.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 555,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1543_1563delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile515_Lys521del",
"transcript": "ENST00000377316.6",
"protein_id": "ENSP00000366533.1",
"transcript_support_level": 5,
"aa_start": 515,
"aa_end": null,
"aa_length": 555,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1849_1869delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile617_Lys623del",
"transcript": "XM_017017766.2",
"protein_id": "XP_016873255.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 657,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1849_1869delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile617_Lys623del",
"transcript": "XM_017017767.3",
"protein_id": "XP_016873256.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 657,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "INSSAIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1849_1869delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile617_Lys623del",
"transcript": "XM_017017768.2",
"protein_id": "XP_016873257.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 657,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.*1016_*1036delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000394374.8",
"protein_id": "ENSP00000377899.4",
"transcript_support_level": 5,
"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": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.2201_2221delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000478548.3",
"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": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.1670_1690delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000671939.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.*804_*824delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000672079.2",
"protein_id": "ENSP00000500905.2",
"transcript_support_level": null,
"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": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.1906_1926delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "NR_176284.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.1918_1938delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "NR_176285.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.1921_1941delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "NR_176286.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.2179_2199delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "NR_176287.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.*1016_*1036delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000394374.8",
"protein_id": "ENSP00000377899.4",
"transcript_support_level": 5,
"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": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.*804_*824delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000672079.2",
"protein_id": "ENSP00000500905.2",
"transcript_support_level": null,
"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": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "n.*31_*51delATCAACTCGAGCGCCATCAAG",
"hgvs_p": null,
"transcript": "ENST00000671965.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"dbsnp": "rs1555163115",
"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": 7.876,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM4",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000450708.7",
"gene_symbol": "MEN1",
"hgnc_id": 7010,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1708_1728delATCAACTCGAGCGCCATCAAG",
"hgvs_p": "p.Ile570_Lys576del"
}
],
"clinvar_disease": " type 1,Hereditary cancer-predisposing syndrome,Multiple endocrine neoplasia",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}