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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: 18-22993047-TTATAAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=22993047&ref=TTATAAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 22993047,
"ref": "TTATAAA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_002894.3",
"consequences": [
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "NM_002894.3",
"protein_id": "NP_002885.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327155.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002894.3"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000327155.10",
"protein_id": "ENSP00000323050.5",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002894.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327155.10"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000360790.9",
"protein_id": "ENSP00000354024.5",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 902,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360790.9"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000399722.6",
"protein_id": "ENSP00000382628.2",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399722.6"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000399725.6",
"protein_id": "ENSP00000382630.2",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 867,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399725.6"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000399721.6",
"protein_id": "ENSP00000382627.2",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 579,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399721.6"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000921842.1",
"protein_id": "ENSP00000591901.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 902,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921842.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "NM_203291.2",
"protein_id": "NP_976036.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203291.2"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000873911.1",
"protein_id": "ENSP00000543970.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873911.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000873912.1",
"protein_id": "ENSP00000543971.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873912.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000873913.1",
"protein_id": "ENSP00000543972.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873913.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000873914.1",
"protein_id": "ENSP00000543973.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873914.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000873915.1",
"protein_id": "ENSP00000543974.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873915.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "ENST00000921841.1",
"protein_id": "ENSP00000591900.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921841.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "NM_203292.2",
"protein_id": "NP_976037.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 867,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203292.2"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_006722519.3",
"protein_id": "XP_006722582.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722519.3"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_006722520.3",
"protein_id": "XP_006722583.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722520.3"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_006722521.3",
"protein_id": "XP_006722584.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722521.3"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_011526132.3",
"protein_id": "XP_011524434.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526132.3"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_047437727.1",
"protein_id": "XP_047293683.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437727.1"
},
{
"aa_ref": "INK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_047437728.1",
"protein_id": "XP_047293684.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 897,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437728.1"
},
{
"aa_ref": "INK",
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"protein_coding": true,
"strand": true,
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"exon_count": 18,
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"transcript": "XM_005258325.4",
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"aa_start": 408,
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"aa_length": 876,
"cds_start": 1223,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_005258325.4"
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{
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"protein_coding": true,
"strand": true,
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"exon_count": 18,
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"gene_symbol": "RBBP8",
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"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_047437729.1",
"protein_id": "XP_047293685.1",
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"aa_start": 408,
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"aa_length": 876,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437729.1"
},
{
"aa_ref": "INK",
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"protein_coding": true,
"strand": true,
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"disruptive_inframe_deletion"
],
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"exon_count": 18,
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"gene_symbol": "RBBP8",
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"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_047437730.1",
"protein_id": "XP_047293686.1",
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"biotype": "protein_coding",
"feature": "XM_047437730.1"
},
{
"aa_ref": "INK",
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"protein_coding": true,
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"disruptive_inframe_deletion"
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"gene_symbol": "RBBP8",
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"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del",
"transcript": "XM_047437731.1",
"protein_id": "XP_047293687.1",
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047437731.1"
},
{
"aa_ref": "INK",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"hgvs_c": "c.929_934delTAAATA",
"hgvs_p": "p.Ile310_Asn311del",
"transcript": "XM_047437732.1",
"protein_id": "XP_047293688.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 799,
"cds_start": 929,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437732.1"
}
],
"gene_symbol": "RBBP8",
"gene_hgnc_id": 9891,
"dbsnp": "rs757747543",
"frequency_reference_population": 0.000027282354,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.000026019,
"gnomad_genomes_af": 0.0000393985,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BP6,BS1",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_002894.3",
"gene_symbol": "RBBP8",
"hgnc_id": 9891,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1223_1228delTAAATA",
"hgvs_p": "p.Ile408_Asn409del"
}
],
"clinvar_disease": "Jawad syndrome,Seckel syndrome 2,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "not specified|Jawad syndrome;Seckel syndrome 2|Seckel syndrome 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}