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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: 5-172960040-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=172960040&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 172960040,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016093.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "NM_016093.4",
"protein_id": "NP_057177.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265100.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016093.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000265100.6",
"protein_id": "ENSP00000265100.2",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016093.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265100.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000519156.1",
"protein_id": "ENSP00000430673.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 127,
"cds_start": 167,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519156.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "NM_001317980.2",
"protein_id": "NP_001304909.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317980.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "NM_001317981.2",
"protein_id": "NP_001304910.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317981.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "NM_001317982.2",
"protein_id": "NP_001304911.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317982.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000519239.5",
"protein_id": "ENSP00000430147.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519239.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000519974.5",
"protein_id": "ENSP00000428177.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519974.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000521476.5",
"protein_id": "ENSP00000428223.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521476.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000906540.1",
"protein_id": "ENSP00000576599.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906540.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000906541.1",
"protein_id": "ENSP00000576600.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906541.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935963.1",
"protein_id": "ENSP00000606022.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935963.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935964.1",
"protein_id": "ENSP00000606023.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935964.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935966.1",
"protein_id": "ENSP00000606025.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935966.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935967.1",
"protein_id": "ENSP00000606026.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935967.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935968.1",
"protein_id": "ENSP00000606027.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935968.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935969.1",
"protein_id": "ENSP00000606028.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935969.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000971027.1",
"protein_id": "ENSP00000641086.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971027.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000971028.1",
"protein_id": "ENSP00000641087.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971028.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "ENST00000935965.1",
"protein_id": "ENSP00000606024.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 98,
"cds_start": 167,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935965.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
"transcript": "XM_011534565.3",
"protein_id": "XP_011532867.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 145,
"cds_start": 167,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534565.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "RPL26L1",
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"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro",
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"biotype": "protein_coding",
"feature": "XM_017009519.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"splice_region_variant"
],
"exon_rank": 2,
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"gene_symbol": "RPL26L1",
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"transcript": "XM_017009520.2",
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"biotype": "protein_coding",
"feature": "XM_017009520.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "RPL26L1",
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"hgvs_c": "c.162+5A>C",
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"transcript": "ENST00000935970.1",
"protein_id": "ENSP00000606029.1",
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"aa_end": null,
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"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935970.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1-AS1",
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"hgvs_c": "n.42T>G",
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"transcript": "ENST00000758379.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000758379.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "RPL26L1-AS1",
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"transcript": "ENST00000758380.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000758380.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1-AS1",
"gene_hgnc_id": 55914,
"hgvs_c": "n.36T>G",
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"transcript": "ENST00000758381.1",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000758381.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1-AS1",
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"hgvs_c": "n.12T>G",
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"transcript": "ENST00000758382.1",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000758382.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.*51A>C",
"hgvs_p": null,
"transcript": "ENST00000519522.1",
"protein_id": "ENSP00000429783.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519522.1"
}
],
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"dbsnp": "rs776736837",
"frequency_reference_population": 0.0000024783087,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": 0.00000656866,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.650070309638977,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9179999828338623,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.655,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9808,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.039,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.991611998372065,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016093.4",
"gene_symbol": "RPL26L1",
"hgnc_id": 17050,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.167A>C",
"hgvs_p": "p.Gln56Pro"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000758379.1",
"gene_symbol": "RPL26L1-AS1",
"hgnc_id": 55914,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.42T>G",
"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
}