← 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: 11-70486006-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70486006&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70486006,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000601538.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4287T>C",
"hgvs_p": "p.Ala1429Ala",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 1429,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4287,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4552,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4287T>C",
"hgvs_p": "p.Ala1429Ala",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 1429,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4287,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4552,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2499T>C",
"hgvs_p": "p.Ala833Ala",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 833,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2499,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2932,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4407T>C",
"hgvs_p": "p.Ala1469Ala",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 1469,
"aa_end": null,
"aa_length": 1889,
"cds_start": 4407,
"cds_end": null,
"cds_length": 5670,
"cdna_start": 4672,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4501,
"cdna_end": null,
"cdna_length": 10779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 10906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4761,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4625,
"cdna_end": null,
"cdna_length": 10903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4634,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4548,
"cdna_end": null,
"cdna_length": 10826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4807,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4432,
"cdna_end": null,
"cdna_length": 10710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4758,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441034.1",
"protein_id": "NP_001427963.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4236,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4401,
"cdna_end": null,
"cdna_length": 10679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4209T>C",
"hgvs_p": "p.Ala1403Ala",
"transcript": "NM_001441035.1",
"protein_id": "NP_001427964.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4209,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 10752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4209T>C",
"hgvs_p": "p.Ala1403Ala",
"transcript": "NM_001441036.1",
"protein_id": "NP_001427965.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4209,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4601,
"cdna_end": null,
"cdna_length": 10879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4209T>C",
"hgvs_p": "p.Ala1403Ala",
"transcript": "NM_001441037.1",
"protein_id": "NP_001427966.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4209,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4374,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4164T>C",
"hgvs_p": "p.Ala1388Ala",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4164,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4429,
"cdna_end": null,
"cdna_length": 10707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4236T>C",
"hgvs_p": "p.Ala1412Ala",
"transcript": "NM_001441039.1",
"protein_id": "NP_001427968.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4236,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4501,
"cdna_end": null,
"cdna_length": 10860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3150T>C",
"hgvs_p": "p.Ala1050Ala",
"transcript": "NM_001379226.1",
"protein_id": "NP_001366155.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1470,
"cds_start": 3150,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 3541,
"cdna_end": null,
"cdna_length": 9819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3150T>C",
"hgvs_p": "p.Ala1050Ala",
"transcript": "ENST00000656230.1",
"protein_id": "ENSP00000499561.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1470,
"cds_start": 3150,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 3541,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3120T>C",
"hgvs_p": "p.Ala1040Ala",
"transcript": "NM_001441040.1",
"protein_id": "NP_001427969.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3120,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3511,
"cdna_end": null,
"cdna_length": 9789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3072T>C",
"hgvs_p": "p.Ala1024Ala",
"transcript": "NM_001441041.1",
"protein_id": "NP_001427970.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1444,
"cds_start": 3072,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 3463,
"cdna_end": null,
"cdna_length": 9741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Ala859Ala",
"transcript": "ENST00000659264.1",
"protein_id": "ENSP00000499270.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2523T>C",
"hgvs_p": "p.Ala841Ala",
"transcript": "NM_133266.5",
"protein_id": "NP_573573.2",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2520T>C",
"hgvs_p": "p.Ala840Ala",
"transcript": "ENST00000338508.9",
"protein_id": "ENSP00000345193.7",
"transcript_support_level": 5,
"aa_start": 840,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2520,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2514T>C",
"hgvs_p": "p.Ala838Ala",
"transcript": "NM_001441042.1",
"protein_id": "NP_001427971.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2514,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 8866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2502T>C",
"hgvs_p": "p.Ala834Ala",
"transcript": "NM_001441043.1",
"protein_id": "NP_001427972.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2502,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2493T>C",
"hgvs_p": "p.Ala831Ala",
"transcript": "NM_001441044.1",
"protein_id": "NP_001427973.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2493,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2472T>C",
"hgvs_p": "p.Ala824Ala",
"transcript": "NM_001441045.1",
"protein_id": "NP_001427974.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2472,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 8824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2445T>C",
"hgvs_p": "p.Ala815Ala",
"transcript": "NM_001441046.1",
"protein_id": "NP_001427975.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2445,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 8797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2391T>C",
"hgvs_p": "p.Ala797Ala",
"transcript": "NM_001441047.1",
"protein_id": "NP_001427976.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2391,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Ala571Ala",
"transcript": "ENST00000654939.1",
"protein_id": "ENSP00000499427.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 816,
"cds_start": 1713,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 6493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4287T>C",
"hgvs_p": "p.Ala1429Ala",
"transcript": "XM_017017388.2",
"protein_id": "XP_016872877.1",
"transcript_support_level": null,
"aa_start": 1429,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4287,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4858,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4260T>C",
"hgvs_p": "p.Ala1420Ala",
"transcript": "XM_017017389.2",
"protein_id": "XP_016872878.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1840,
"cds_start": 4260,
"cds_end": null,
"cds_length": 5523,
"cdna_start": 4525,
"cdna_end": null,
"cdna_length": 10803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2880T>C",
"hgvs_p": "p.Ala960Ala",
"transcript": "XM_047426622.1",
"protein_id": "XP_047282578.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1380,
"cds_start": 2880,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 9426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Ala859Ala",
"transcript": "XM_017017390.2",
"protein_id": "XP_016872879.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2853,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.757+4297T>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "n.834+4297T>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
}
],
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"dbsnp": "rs116984460",
"frequency_reference_population": 0.0011560722,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1866,
"gnomad_exomes_af": 0.0011814,
"gnomad_genomes_af": 0.000912936,
"gnomad_exomes_ac": 1727,
"gnomad_genomes_ac": 139,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.248,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000601538.6",
"gene_symbol": "SHANK2",
"hgnc_id": 14295,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4287T>C",
"hgvs_p": "p.Ala1429Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}