← 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: 11-70485997-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70485997&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70485997,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000601538.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"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.4296G>A",
"hgvs_p": "p.Pro1432Pro",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4296,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4561,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4296G>A",
"hgvs_p": "p.Pro1432Pro",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4296,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4561,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2508G>A",
"hgvs_p": "p.Pro836Pro",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4416G>A",
"hgvs_p": "p.Pro1472Pro",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 1472,
"aa_end": null,
"aa_length": 1889,
"cds_start": 4416,
"cds_end": null,
"cds_length": 5670,
"cdna_start": 4681,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4510,
"cdna_end": null,
"cdna_length": 10779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4637,
"cdna_end": null,
"cdna_length": 10906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4770,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4634,
"cdna_end": null,
"cdna_length": 10903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4643,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4557,
"cdna_end": null,
"cdna_length": 10826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4816,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4441,
"cdna_end": null,
"cdna_length": 10710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441034.1",
"protein_id": "NP_001427963.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 4410,
"cdna_end": null,
"cdna_length": 10679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4218G>A",
"hgvs_p": "p.Pro1406Pro",
"transcript": "NM_001441035.1",
"protein_id": "NP_001427964.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4218,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4483,
"cdna_end": null,
"cdna_length": 10752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4218G>A",
"hgvs_p": "p.Pro1406Pro",
"transcript": "NM_001441036.1",
"protein_id": "NP_001427965.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4218,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4610,
"cdna_end": null,
"cdna_length": 10879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4218G>A",
"hgvs_p": "p.Pro1406Pro",
"transcript": "NM_001441037.1",
"protein_id": "NP_001427966.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4218,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4383,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4173G>A",
"hgvs_p": "p.Pro1391Pro",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4173,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 10707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4245G>A",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001441039.1",
"protein_id": "NP_001427968.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4245,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 4510,
"cdna_end": null,
"cdna_length": 10860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3159G>A",
"hgvs_p": "p.Pro1053Pro",
"transcript": "NM_001379226.1",
"protein_id": "NP_001366155.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1470,
"cds_start": 3159,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 9819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3159G>A",
"hgvs_p": "p.Pro1053Pro",
"transcript": "ENST00000656230.1",
"protein_id": "ENSP00000499561.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1470,
"cds_start": 3159,
"cds_end": null,
"cds_length": 4413,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3129G>A",
"hgvs_p": "p.Pro1043Pro",
"transcript": "NM_001441040.1",
"protein_id": "NP_001427969.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3129,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3520,
"cdna_end": null,
"cdna_length": 9789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3081G>A",
"hgvs_p": "p.Pro1027Pro",
"transcript": "NM_001441041.1",
"protein_id": "NP_001427970.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1444,
"cds_start": 3081,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 9741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2586G>A",
"hgvs_p": "p.Pro862Pro",
"transcript": "ENST00000659264.1",
"protein_id": "ENSP00000499270.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2586,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2532G>A",
"hgvs_p": "p.Pro844Pro",
"transcript": "NM_133266.5",
"protein_id": "NP_573573.2",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2532,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2529G>A",
"hgvs_p": "p.Pro843Pro",
"transcript": "ENST00000338508.9",
"protein_id": "ENSP00000345193.7",
"transcript_support_level": 5,
"aa_start": 843,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2529,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2523G>A",
"hgvs_p": "p.Pro841Pro",
"transcript": "NM_001441042.1",
"protein_id": "NP_001427971.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 8866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2511G>A",
"hgvs_p": "p.Pro837Pro",
"transcript": "NM_001441043.1",
"protein_id": "NP_001427972.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2511,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2502G>A",
"hgvs_p": "p.Pro834Pro",
"transcript": "NM_001441044.1",
"protein_id": "NP_001427973.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2502,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2481G>A",
"hgvs_p": "p.Pro827Pro",
"transcript": "NM_001441045.1",
"protein_id": "NP_001427974.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 8824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2454G>A",
"hgvs_p": "p.Pro818Pro",
"transcript": "NM_001441046.1",
"protein_id": "NP_001427975.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2454,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 8797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2400G>A",
"hgvs_p": "p.Pro800Pro",
"transcript": "NM_001441047.1",
"protein_id": "NP_001427976.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2400,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000654939.1",
"protein_id": "ENSP00000499427.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 816,
"cds_start": 1722,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 6493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4296G>A",
"hgvs_p": "p.Pro1432Pro",
"transcript": "XM_017017388.2",
"protein_id": "XP_016872877.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1849,
"cds_start": 4296,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 4867,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.4269G>A",
"hgvs_p": "p.Pro1423Pro",
"transcript": "XM_017017389.2",
"protein_id": "XP_016872878.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1840,
"cds_start": 4269,
"cds_end": null,
"cds_length": 5523,
"cdna_start": 4534,
"cdna_end": null,
"cdna_length": 10803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2889G>A",
"hgvs_p": "p.Pro963Pro",
"transcript": "XM_047426622.1",
"protein_id": "XP_047282578.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1380,
"cds_start": 2889,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 9426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2586G>A",
"hgvs_p": "p.Pro862Pro",
"transcript": "XM_017017390.2",
"protein_id": "XP_016872879.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2586,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2862,
"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+4306G>A",
"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+4306G>A",
"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": "rs559537625",
"frequency_reference_population": 0.00010657519,
"hom_count_reference_population": 0,
"allele_count_reference_population": 172,
"gnomad_exomes_af": 0.000110135,
"gnomad_genomes_af": 0.0000723475,
"gnomad_exomes_ac": 161,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.404,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000601538.6",
"gene_symbol": "SHANK2",
"hgnc_id": 14295,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4296G>A",
"hgvs_p": "p.Pro1432Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}