← 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: 22-31095309-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31095309&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31095309,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000333137.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_134269.3",
"protein_id": "NP_599031.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 915,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": "ENST00000333137.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "ENST00000333137.12",
"protein_id": "ENSP00000329532.7",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 915,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": "NM_134269.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "ENST00000347557.6",
"protein_id": "ENSP00000328635.5",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 917,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1921G>C",
"hgvs_p": "p.Ala641Pro",
"transcript": "NM_001382642.1",
"protein_id": "NP_001369571.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1921,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "NM_001207017.1",
"protein_id": "NP_001193946.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1894,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "ENST00000619644.5",
"protein_id": "ENSP00000484398.1",
"transcript_support_level": 2,
"aa_start": 632,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1894,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1807G>C",
"hgvs_p": "p.Ala603Pro",
"transcript": "NM_001207018.2",
"protein_id": "NP_001193947.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 971,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1807G>C",
"hgvs_p": "p.Ala603Pro",
"transcript": "ENST00000612341.4",
"protein_id": "ENSP00000479578.1",
"transcript_support_level": 2,
"aa_start": 603,
"aa_end": null,
"aa_length": 971,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "NM_001382643.1",
"protein_id": "NP_001369572.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 969,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "NM_001382644.1",
"protein_id": "NP_001369573.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 969,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "ENST00000440425.6",
"protein_id": "ENSP00000401341.2",
"transcript_support_level": 4,
"aa_start": 601,
"aa_end": null,
"aa_length": 968,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1732G>C",
"hgvs_p": "p.Ala578Pro",
"transcript": "NM_001382645.1",
"protein_id": "NP_001369574.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 946,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_134270.3",
"protein_id": "NP_599032.2",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 940,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "ENST00000358743.5",
"protein_id": "ENSP00000351593.1",
"transcript_support_level": 2,
"aa_start": 547,
"aa_end": null,
"aa_length": 940,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_006932.5",
"protein_id": "NP_008863.3",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 917,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_001382638.1",
"protein_id": "NP_001369567.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 915,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_001382639.1",
"protein_id": "NP_001369568.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 915,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_001382640.1",
"protein_id": "NP_001369569.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 915,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_001382641.1",
"protein_id": "NP_001369570.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 915,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_001382646.1",
"protein_id": "NP_001369575.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 870,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro",
"transcript": "NM_001382647.1",
"protein_id": "NP_001369576.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 839,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "NM_001382648.1",
"protein_id": "NP_001369577.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 573,
"cds_start": 613,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "ENST00000404574.5",
"protein_id": "ENSP00000383919.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 438,
"cds_start": 436,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_017028913.2",
"protein_id": "XP_016884402.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1894,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_047441466.1",
"protein_id": "XP_047297422.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1894,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "XM_017028914.2",
"protein_id": "XP_016884403.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 971,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_047441467.1",
"protein_id": "XP_047297423.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 955,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_017028917.2",
"protein_id": "XP_016884406.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 927,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_011530336.3",
"protein_id": "XP_011528638.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 926,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "XM_047441468.1",
"protein_id": "XP_047297424.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 924,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_047441469.1",
"protein_id": "XP_047297425.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 924,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_017028918.2",
"protein_id": "XP_016884407.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 922,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "XM_011530338.3",
"protein_id": "XP_011528640.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 895,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "XM_047441470.1",
"protein_id": "XP_047297426.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 893,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Ala632Pro",
"transcript": "XM_011530339.3",
"protein_id": "XP_011528641.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 731,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "XM_047441471.1",
"protein_id": "XP_047297427.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 700,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.70G>C",
"hgvs_p": null,
"transcript": "ENST00000455608.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.1451G>C",
"hgvs_p": null,
"transcript": "ENST00000460658.5",
"protein_id": null,
"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": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.1915G>C",
"hgvs_p": null,
"transcript": "ENST00000489337.5",
"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": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.411G>C",
"hgvs_p": null,
"transcript": "ENST00000493335.5",
"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": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.1848G>C",
"hgvs_p": null,
"transcript": "NR_168472.1",
"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": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.2002G>C",
"hgvs_p": null,
"transcript": "NR_168473.1",
"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": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.1858G>C",
"hgvs_p": null,
"transcript": "NR_168474.1",
"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": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.1951G>C",
"hgvs_p": null,
"transcript": "NR_168475.1",
"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": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"dbsnp": "rs3205187",
"frequency_reference_population": 0.624914,
"hom_count_reference_population": 324069,
"allele_count_reference_population": 1008110,
"gnomad_exomes_af": 0.629944,
"gnomad_genomes_af": 0.576618,
"gnomad_exomes_ac": 920373,
"gnomad_genomes_ac": 87737,
"gnomad_exomes_homalt": 297758,
"gnomad_genomes_homalt": 26311,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000074141344157396816,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.0476,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.488,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000333137.12",
"gene_symbol": "SMTN",
"hgnc_id": 11126,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1639G>C",
"hgvs_p": "p.Ala547Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}