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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: 11-57416607-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57416607&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57416607,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001278206.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "NM_199329.3",
"protein_id": "NP_955361.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 735,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395124.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199329.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "ENST00000395124.6",
"protein_id": "ENSP00000378556.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 735,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199329.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395124.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "ENST00000352187.5",
"protein_id": "ENSP00000337561.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 735,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352187.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "ENST00000395123.6",
"protein_id": "ENSP00000378555.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 735,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395123.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "ENST00000530005.5",
"protein_id": "ENSP00000435893.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 330,
"cds_start": 735,
"cds_end": null,
"cds_length": 994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530005.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "NM_001278206.2",
"protein_id": "NP_001265135.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278206.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000533524.5",
"protein_id": "ENSP00000434515.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533524.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865321.1",
"protein_id": "ENSP00000535380.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865321.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865323.1",
"protein_id": "ENSP00000535382.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865323.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865331.1",
"protein_id": "ENSP00000535390.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865331.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865333.1",
"protein_id": "ENSP00000535392.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865333.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865339.1",
"protein_id": "ENSP00000535398.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865339.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865341.1",
"protein_id": "ENSP00000535400.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865341.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865342.1",
"protein_id": "ENSP00000535401.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865342.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865344.1",
"protein_id": "ENSP00000535403.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865344.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000865346.1",
"protein_id": "ENSP00000535405.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865346.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000955578.1",
"protein_id": "ENSP00000625637.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955578.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000955579.1",
"protein_id": "ENSP00000625638.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955579.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp",
"transcript": "ENST00000955582.1",
"protein_id": "ENSP00000625641.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 774,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955582.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.750G>T",
"hgvs_p": "p.Glu250Asp",
"transcript": "ENST00000920081.1",
"protein_id": "ENSP00000590140.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 496,
"cds_start": 750,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920081.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "NM_001278201.2",
"protein_id": "NP_001265130.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 735,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278201.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "NM_014096.4",
"protein_id": "NP_054815.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 735,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cdna_length": null,
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"feature": "ENST00000955581.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 13,
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"hgvs_p": "p.Glu214Asp",
"transcript": "ENST00000865337.1",
"protein_id": "ENSP00000535396.1",
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"aa_start": 214,
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},
{
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"protein_coding": true,
"strand": false,
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"missense_variant"
],
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"exon_count": 13,
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"gene_symbol": "SLC43A3",
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"hgvs_c": "c.735G>T",
"hgvs_p": "p.Glu245Asp",
"transcript": "ENST00000865340.1",
"protein_id": "ENSP00000535399.1",
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"aa_start": 245,
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"aa_length": 433,
"cds_start": 735,
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"biotype": "protein_coding",
"feature": "ENST00000865340.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "SLC43A3",
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"hgvs_c": "n.45G>T",
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"transcript": "ENST00000525205.5",
"protein_id": "ENSP00000433078.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525205.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 8,
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"gene_symbol": "SLC43A3",
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"transcript": "ENST00000528098.5",
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"biotype": "pseudogene",
"feature": "ENST00000528098.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 13,
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"gene_symbol": "ENSG00000254979",
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"hgvs_c": "n.452G>T",
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"transcript": "ENST00000534081.5",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534081.5"
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],
"gene_symbol": "SLC43A3",
"gene_hgnc_id": 17466,
"dbsnp": "rs1385303259",
"frequency_reference_population": 0.000004956679,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478858,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06863364577293396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.642,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278206.2",
"gene_symbol": "SLC43A3",
"hgnc_id": 17466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.774G>T",
"hgvs_p": "p.Glu258Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534081.5",
"gene_symbol": "ENSG00000254979",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.452G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}