← 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: 11-70472890-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70472890&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70472890,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012309.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5529G>C",
"hgvs_p": "p.Leu1843Phe",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5529,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5794,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5529G>C",
"hgvs_p": "p.Leu1843Phe",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5529,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5794,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3741G>C",
"hgvs_p": "p.Leu1247Phe",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3741,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 4174,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5649G>C",
"hgvs_p": "p.Leu1883Phe",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 1883,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5649,
"cds_end": null,
"cds_length": 5670,
"cdna_start": 5914,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5743,
"cdna_end": null,
"cdna_length": 10779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5870,
"cdna_end": null,
"cdna_length": 10906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 6003,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5867,
"cdna_end": null,
"cdna_length": 10903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5876,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5790,
"cdna_end": null,
"cdna_length": 10826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 6049,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5674,
"cdna_end": null,
"cdna_length": 10710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 6000,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5478G>C",
"hgvs_p": "p.Leu1826Phe",
"transcript": "NM_001441034.1",
"protein_id": "NP_001427963.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5478,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5643,
"cdna_end": null,
"cdna_length": 10679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5451G>C",
"hgvs_p": "p.Leu1817Phe",
"transcript": "NM_001441035.1",
"protein_id": "NP_001427964.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5451,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 5716,
"cdna_end": null,
"cdna_length": 10752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5451G>C",
"hgvs_p": "p.Leu1817Phe",
"transcript": "NM_001441036.1",
"protein_id": "NP_001427965.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5451,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 5843,
"cdna_end": null,
"cdna_length": 10879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5451G>C",
"hgvs_p": "p.Leu1817Phe",
"transcript": "NM_001441037.1",
"protein_id": "NP_001427966.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5451,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 5616,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5406G>C",
"hgvs_p": "p.Leu1802Phe",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 1802,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5406,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 5671,
"cdna_end": null,
"cdna_length": 10707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4392G>C",
"hgvs_p": "p.Leu1464Phe",
"transcript": "NM_001379226.1",
"protein_id": "NP_001366155.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1470,
"cds_start": 4392,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 4783,
"cdna_end": null,
"cdna_length": 9819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4392G>C",
"hgvs_p": "p.Leu1464Phe",
"transcript": "ENST00000656230.1",
"protein_id": "ENSP00000499561.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1470,
"cds_start": 4392,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 4783,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4362G>C",
"hgvs_p": "p.Leu1454Phe",
"transcript": "NM_001441040.1",
"protein_id": "NP_001427969.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4362,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4753,
"cdna_end": null,
"cdna_length": 9789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4314G>C",
"hgvs_p": "p.Leu1438Phe",
"transcript": "NM_001441041.1",
"protein_id": "NP_001427970.1",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1444,
"cds_start": 4314,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 4705,
"cdna_end": null,
"cdna_length": 9741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3819G>C",
"hgvs_p": "p.Leu1273Phe",
"transcript": "ENST00000659264.1",
"protein_id": "ENSP00000499270.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3819,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3765G>C",
"hgvs_p": "p.Leu1255Phe",
"transcript": "NM_133266.5",
"protein_id": "NP_573573.2",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3765,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3762G>C",
"hgvs_p": "p.Leu1254Phe",
"transcript": "ENST00000338508.9",
"protein_id": "ENSP00000345193.7",
"transcript_support_level": 5,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3762,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3756G>C",
"hgvs_p": "p.Leu1252Phe",
"transcript": "NM_001441042.1",
"protein_id": "NP_001427971.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3756,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 8866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3744G>C",
"hgvs_p": "p.Leu1248Phe",
"transcript": "NM_001441043.1",
"protein_id": "NP_001427972.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3735G>C",
"hgvs_p": "p.Leu1245Phe",
"transcript": "NM_001441044.1",
"protein_id": "NP_001427973.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3735,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3714G>C",
"hgvs_p": "p.Leu1238Phe",
"transcript": "NM_001441045.1",
"protein_id": "NP_001427974.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3714,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3788,
"cdna_end": null,
"cdna_length": 8824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3687G>C",
"hgvs_p": "p.Leu1229Phe",
"transcript": "NM_001441046.1",
"protein_id": "NP_001427975.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3687,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3761,
"cdna_end": null,
"cdna_length": 8797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3633G>C",
"hgvs_p": "p.Leu1211Phe",
"transcript": "NM_001441047.1",
"protein_id": "NP_001427976.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3707,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5529G>C",
"hgvs_p": "p.Leu1843Phe",
"transcript": "XM_017017388.2",
"protein_id": "XP_016872877.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5529,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 6100,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5502G>C",
"hgvs_p": "p.Leu1834Phe",
"transcript": "XM_017017389.2",
"protein_id": "XP_016872878.1",
"transcript_support_level": null,
"aa_start": 1834,
"aa_end": null,
"aa_length": 1840,
"cds_start": 5502,
"cds_end": null,
"cds_length": 5523,
"cdna_start": 5767,
"cdna_end": null,
"cdna_length": 10803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4122G>C",
"hgvs_p": "p.Leu1374Phe",
"transcript": "XM_047426622.1",
"protein_id": "XP_047282578.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1380,
"cds_start": 4122,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 4390,
"cdna_end": null,
"cdna_length": 9426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3819G>C",
"hgvs_p": "p.Leu1273Phe",
"transcript": "XM_017017390.2",
"protein_id": "XP_016872879.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3819,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 9131,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "n.2281G>C",
"hgvs_p": null,
"transcript": "ENST00000606715.3",
"protein_id": null,
"transcript_support_level": 6,
"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": 5738,
"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": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "n.1384G>C",
"hgvs_p": null,
"transcript": "NR_110766.2",
"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": 6420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.*585G>C",
"hgvs_p": null,
"transcript": "NM_001441039.1",
"protein_id": "NP_001427968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.*585G>C",
"hgvs_p": null,
"transcript": "ENST00000654939.1",
"protein_id": "ENSP00000499427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.*533G>C",
"hgvs_p": null,
"transcript": "ENST00000412252.6",
"protein_id": "ENSP00000414876.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"dbsnp": null,
"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": 0.48244723677635193,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.659,
"phylop100way_prediction": "Benign",
"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_012309.5",
"gene_symbol": "SHANK2",
"hgnc_id": 14295,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5529G>C",
"hgvs_p": "p.Leu1843Phe"
}
],
"clinvar_disease": "SHANK2-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SHANK2-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}