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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: 14-56585009-ATC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=56585009&ref=ATC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 56585009,
"ref": "ATC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_017799.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "NM_017799.4",
"protein_id": "NP_060269.3",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 707,
"cds_start": 170,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261556.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017799.4"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000261556.11",
"protein_id": "ENSP00000261556.6",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 707,
"cds_start": 170,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017799.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261556.11"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000538838.5",
"protein_id": "ENSP00000441934.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 409,
"cds_start": 170,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.170_171delTC",
"hgvs_p": null,
"transcript": "ENST00000539559.6",
"protein_id": "ENSP00000442602.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539559.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.-299_-298delTC",
"hgvs_p": null,
"transcript": "ENST00000556422.5",
"protein_id": "ENSP00000450988.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556422.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.254_255delTC",
"hgvs_p": null,
"transcript": "ENST00000557626.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000557626.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.260_261delTC",
"hgvs_p": null,
"transcript": "ENST00000557657.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000557657.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.-299_-298delTC",
"hgvs_p": null,
"transcript": "ENST00000556422.5",
"protein_id": "ENSP00000450988.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556422.5"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000885318.1",
"protein_id": "ENSP00000555377.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 727,
"cds_start": 170,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885318.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000885313.1",
"protein_id": "ENSP00000555372.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 689,
"cds_start": 170,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885313.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000885314.1",
"protein_id": "ENSP00000555373.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 662,
"cds_start": 170,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885314.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000885317.1",
"protein_id": "ENSP00000555376.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 647,
"cds_start": 170,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885317.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000931870.1",
"protein_id": "ENSP00000601929.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 630,
"cds_start": 170,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931870.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000965392.1",
"protein_id": "ENSP00000635451.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 612,
"cds_start": 170,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965392.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000885316.1",
"protein_id": "ENSP00000555375.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 600,
"cds_start": 170,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885316.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000885315.1",
"protein_id": "ENSP00000555374.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 584,
"cds_start": 170,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885315.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "ENST00000965391.1",
"protein_id": "ENSP00000635450.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 570,
"cds_start": 170,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965391.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.59_60delTC",
"hgvs_p": "p.Ile20fs",
"transcript": "ENST00000556810.5",
"protein_id": "ENSP00000451677.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 73,
"cds_start": 59,
"cds_end": null,
"cds_length": 223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556810.5"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "XM_011536851.3",
"protein_id": "XP_011535153.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 636,
"cds_start": 170,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536851.3"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "XM_047431495.1",
"protein_id": "XP_047287451.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 441,
"cds_start": 170,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431495.1"
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs",
"transcript": "XM_047431497.1",
"protein_id": "XP_047287453.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 409,
"cds_start": 170,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.-299_-298delTC",
"hgvs_p": null,
"transcript": "XM_047431494.1",
"protein_id": "XP_047287450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.170_171delTC",
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"transcript": "ENST00000555497.5",
"protein_id": "ENSP00000452065.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555497.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.259_260delTC",
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"transcript": "ENST00000556975.5",
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"transcript_support_level": 4,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000556975.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
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"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.287_288delTC",
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"transcript": "XR_007064017.1",
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"aa_end": null,
"aa_length": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064017.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
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"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.287_288delTC",
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"transcript": "XR_007064018.1",
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"biotype": "pseudogene",
"feature": "XR_007064018.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.287_288delTC",
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"transcript": "XR_007064019.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064019.1"
}
],
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.645,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_017799.4",
"gene_symbol": "TMEM260",
"hgnc_id": 20185,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.170_171delTC",
"hgvs_p": "p.Ile57fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}