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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: 2-27201040-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27201040&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27201040,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_021095.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "NM_021095.4",
"protein_id": "NP_066918.2",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310574.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021095.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000310574.8",
"protein_id": "ENSP00000310208.3",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310574.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000408041.5",
"protein_id": "ENSP00000384853.1",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408041.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"transcript": "XM_024453207.2",
"protein_id": "XP_024308975.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 562,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453207.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"transcript": "XM_047446244.1",
"protein_id": "XP_047302200.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 562,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446244.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"transcript": "XM_047446245.1",
"protein_id": "XP_047302201.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 562,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446245.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"transcript": "XM_047446246.1",
"protein_id": "XP_047302202.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 562,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446246.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1755G>A",
"hgvs_p": "p.Pro585Pro",
"transcript": "ENST00000892752.1",
"protein_id": "ENSP00000562811.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 646,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892752.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892748.1",
"protein_id": "ENSP00000562807.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892748.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892751.1",
"protein_id": "ENSP00000562810.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892751.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892753.1",
"protein_id": "ENSP00000562812.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892753.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892754.1",
"protein_id": "ENSP00000562813.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892754.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892755.1",
"protein_id": "ENSP00000562814.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892755.1"
},
{
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892756.1",
"protein_id": "ENSP00000562815.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892756.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000892757.1",
"protein_id": "ENSP00000562816.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892757.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000926531.1",
"protein_id": "ENSP00000596590.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926531.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000926534.1",
"protein_id": "ENSP00000596593.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926534.1"
},
{
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000926537.1",
"protein_id": "ENSP00000596596.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926537.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000962472.1",
"protein_id": "ENSP00000632531.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962472.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000962473.1",
"protein_id": "ENSP00000632532.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962473.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000962474.1",
"protein_id": "ENSP00000632533.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962474.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000962475.1",
"protein_id": "ENSP00000632534.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 635,
"cds_start": 1722,
"cds_end": null,
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"biotype": "pseudogene",
"feature": "XR_001739023.2"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"exon_count": 18,
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"biotype": "pseudogene",
"feature": "XR_001739024.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "SLC5A6",
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"hgvs_c": "n.2178G>A",
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"feature": "XR_002959356.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
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"exon_count": 17,
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"gene_symbol": "SLC5A6",
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"hgvs_c": "n.2074G>A",
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"biotype": "pseudogene",
"feature": "XR_002959358.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "SLC5A6",
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"feature": "XR_007084322.1"
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{
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"consequences": [
"intron_variant"
],
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"exon_count": 16,
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"gene_symbol": "SLC5A6",
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"hgvs_c": "n.2001-461G>A",
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"feature": "XR_002959357.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "SLC5A6",
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"hgvs_c": "n.*62G>A",
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"transcript": "ENST00000461319.5",
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"biotype": "pseudogene",
"feature": "ENST00000461319.5"
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],
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"dbsnp": "rs61737378",
"frequency_reference_population": 0.0012796108,
"hom_count_reference_population": 25,
"allele_count_reference_population": 2065,
"gnomad_exomes_af": 0.00074714,
"gnomad_genomes_af": 0.00639299,
"gnomad_exomes_ac": 1092,
"gnomad_genomes_ac": 973,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"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": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.304,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_021095.4",
"gene_symbol": "SLC5A6",
"hgnc_id": 11041,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Pro574Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}