← 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: 12-59779575-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=59779575&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 59779575,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004731.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "NM_001270623.2",
"protein_id": "NP_001257552.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 11936,
"mane_select": "ENST00000547379.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270623.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000547379.6",
"protein_id": "ENSP00000448071.1",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 11936,
"mane_select": "NM_001270623.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547379.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000261187.8",
"protein_id": "ENSP00000261187.4",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 11777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261187.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000552432.5",
"protein_id": "ENSP00000449547.1",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.*1215A>T",
"hgvs_p": null,
"transcript": "ENST00000549928.5",
"protein_id": "ENSP00000449167.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.*1215A>T",
"hgvs_p": null,
"transcript": "ENST00000549928.5",
"protein_id": "ENSP00000449167.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549928.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "ENST00000858943.1",
"protein_id": "ENSP00000529002.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858943.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "ENST00000858953.1",
"protein_id": "ENSP00000529012.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858953.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "ENST00000858955.1",
"protein_id": "ENSP00000529014.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858955.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1351A>T",
"hgvs_p": "p.Thr451Ser",
"transcript": "ENST00000958122.1",
"protein_id": "ENSP00000628181.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 484,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958122.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "NM_001270622.2",
"protein_id": "NP_001257551.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 11916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270622.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "NM_004731.5",
"protein_id": "NP_004722.2",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 11730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004731.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000552024.5",
"protein_id": "ENSP00000448742.1",
"transcript_support_level": 5,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552024.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858944.1",
"protein_id": "ENSP00000529003.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858944.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858945.1",
"protein_id": "ENSP00000529004.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858945.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858946.1",
"protein_id": "ENSP00000529005.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858946.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858947.1",
"protein_id": "ENSP00000529006.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858947.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858948.1",
"protein_id": "ENSP00000529007.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858948.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858949.1",
"protein_id": "ENSP00000529008.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858949.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858950.1",
"protein_id": "ENSP00000529009.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858950.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858951.1",
"protein_id": "ENSP00000529010.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858951.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858952.1",
"protein_id": "ENSP00000529011.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858952.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858954.1",
"protein_id": "ENSP00000529013.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858954.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "ENST00000858956.1",
"protein_id": "ENSP00000529015.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858956.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1327A>T",
"hgvs_p": "p.Thr443Ser",
"transcript": "ENST00000958121.1",
"protein_id": "ENSP00000628180.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 476,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958121.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1327A>T",
"hgvs_p": "p.Thr443Ser",
"transcript": "ENST00000958123.1",
"protein_id": "ENSP00000628182.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 476,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958123.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "XM_011538989.3",
"protein_id": "XP_011537291.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 12014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538989.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "XM_011538990.4",
"protein_id": "XP_011537292.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 11808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538990.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "XM_011538991.3",
"protein_id": "XP_011537293.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 11777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538991.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Thr471Ser",
"transcript": "XM_011538992.3",
"protein_id": "XP_011537294.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 504,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 11834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538992.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "XM_005269231.4",
"protein_id": "XP_005269288.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 11699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269231.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser",
"transcript": "XM_024449276.2",
"protein_id": "XP_024305044.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 478,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449276.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1036A>T",
"hgvs_p": "p.Thr346Ser",
"transcript": "XM_011538995.3",
"protein_id": "XP_011537297.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 379,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 12498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538995.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1036A>T",
"hgvs_p": "p.Thr346Ser",
"transcript": "XM_017020226.3",
"protein_id": "XP_016875715.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 379,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 12548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020226.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.1036A>T",
"hgvs_p": "p.Thr346Ser",
"transcript": "XM_047429885.1",
"protein_id": "XP_047285841.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 379,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 4341,
"cdna_end": null,
"cdna_length": 14607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.*1183A>T",
"hgvs_p": null,
"transcript": "ENST00000549033.5",
"protein_id": "ENSP00000447459.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549033.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.1740A>T",
"hgvs_p": null,
"transcript": "NR_073055.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073055.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.1601A>T",
"hgvs_p": null,
"transcript": "NR_073056.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11867,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073056.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.*1183A>T",
"hgvs_p": null,
"transcript": "ENST00000549033.5",
"protein_id": "ENSP00000447459.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549033.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.*27A>T",
"hgvs_p": null,
"transcript": "ENST00000548610.5",
"protein_id": "ENSP00000446722.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548610.5"
}
],
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"dbsnp": "rs3763980",
"frequency_reference_population": 0.24483608,
"hom_count_reference_population": 49172,
"allele_count_reference_population": 394404,
"gnomad_exomes_af": 0.245666,
"gnomad_genomes_af": 0.236869,
"gnomad_exomes_ac": 358398,
"gnomad_genomes_ac": 36006,
"gnomad_exomes_homalt": 44811,
"gnomad_genomes_homalt": 4361,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00813344120979309,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0753,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.962,
"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": "NM_004731.5",
"gene_symbol": "SLC16A7",
"hgnc_id": 10928,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1333A>T",
"hgvs_p": "p.Thr445Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}