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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: 11-68173898-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68173898&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68173898,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000304363.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "NM_017635.5",
"protein_id": "NP_060105.3",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 885,
"cds_start": 559,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": "ENST00000304363.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "ENST00000304363.9",
"protein_id": "ENSP00000305899.4",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 885,
"cds_start": 559,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": "NM_017635.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "ENST00000615954.4",
"protein_id": "ENSP00000484858.1",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 885,
"cds_start": 559,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "ENST00000401547.6",
"protein_id": "ENSP00000385965.2",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 393,
"cds_start": 559,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "n.559C>T",
"hgvs_p": null,
"transcript": "ENST00000441488.6",
"protein_id": "ENSP00000411146.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "NM_001369426.1",
"protein_id": "NP_001356355.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 885,
"cds_start": 559,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116*",
"transcript": "ENST00000453170.6",
"protein_id": "ENSP00000406377.2",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 814,
"cds_start": 346,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001300907.1",
"protein_id": "NP_001287836.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001369428.1",
"protein_id": "NP_001356357.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001369429.1",
"protein_id": "NP_001356358.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001369430.1",
"protein_id": "NP_001356359.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 5573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001369431.1",
"protein_id": "NP_001356360.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001369432.1",
"protein_id": "NP_001356361.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "NM_001369433.1",
"protein_id": "NP_001356362.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
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"cdna_start": 1456,
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"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15*",
"transcript": "ENST00000700523.1",
"protein_id": "ENSP00000515030.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 713,
"cds_start": 43,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "NM_001363566.2",
"protein_id": "NP_001350495.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
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"cds_start": 559,
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"cds_length": 1209,
"cdna_start": 807,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "ENST00000402789.5",
"protein_id": "ENSP00000385005.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 402,
"cds_start": 559,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "NM_001369427.1",
"protein_id": "NP_001356356.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 393,
"cds_start": 559,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "NM_016028.4",
"protein_id": "NP_057112.3",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 393,
"cds_start": 559,
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"cds_length": 1182,
"cdna_start": 815,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"transcript": "ENST00000405515.5",
"protein_id": "ENSP00000385640.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 393,
"cds_start": 559,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 987,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "NM_001300909.2",
"protein_id": "NP_001287838.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 370,
"cds_start": 490,
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"cdna_start": 738,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000402185.6",
"protein_id": "ENSP00000384724.2",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 370,
"cds_start": 490,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116*",
"transcript": "NM_001369425.1",
"protein_id": "NP_001356354.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 11,
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"gene_symbol": "KMT5B",
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"transcript": "ENST00000700521.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "KMT5B",
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"hgvs_c": "n.*226C>T",
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"transcript": "ENST00000700522.1",
"protein_id": "ENSP00000515029.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.-517C>T",
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"transcript": "XM_047427073.1",
"protein_id": "XP_047283029.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4741,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"dbsnp": "rs114727354",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.827,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000304363.9",
"gene_symbol": "KMT5B",
"hgnc_id": 24283,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*"
}
],
"clinvar_disease": " autosomal dominant 51,Intellectual disability,Neural tube defect",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Intellectual disability, autosomal dominant 51|Neural tube defect",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}