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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: 10-21534743-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=21534743&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 21534743,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001195626.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001195626.3",
"protein_id": "NP_001182555.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1068,
"cds_start": 99,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": "ENST00000307729.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000307729.12",
"protein_id": "ENSP00000307411.7",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 1068,
"cds_start": 99,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": "NM_001195626.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000377059.7",
"protein_id": "ENSP00000366258.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 1068,
"cds_start": 99,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000377072.8",
"protein_id": "ENSP00000366272.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 1027,
"cds_start": 99,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000377091.7",
"protein_id": "ENSP00000366295.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 126,
"cds_start": 99,
"cds_end": null,
"cds_length": 381,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000621220.4",
"protein_id": "ENSP00000484335.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 126,
"cds_start": 99,
"cds_end": null,
"cds_length": 381,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.42C>T",
"hgvs_p": null,
"transcript": "ENST00000476557.5",
"protein_id": null,
"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": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.-977C>T",
"hgvs_p": null,
"transcript": "NM_001324297.2",
"protein_id": "NP_001311226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000631589.1",
"protein_id": "ENSP00000488569.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 1068,
"cds_start": 99,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_004641.4",
"protein_id": "NP_004632.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1027,
"cds_start": 99,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001195628.2",
"protein_id": "NP_001182557.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 179,
"cds_start": 99,
"cds_end": null,
"cds_length": 540,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001195630.2",
"protein_id": "NP_001182559.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 179,
"cds_start": 99,
"cds_end": null,
"cds_length": 540,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001324296.2",
"protein_id": "NP_001311225.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 179,
"cds_start": 99,
"cds_end": null,
"cds_length": 540,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000377100.8",
"protein_id": "ENSP00000366304.3",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 179,
"cds_start": 99,
"cds_end": null,
"cds_length": 540,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000652497.1",
"protein_id": "ENSP00000498595.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 179,
"cds_start": 99,
"cds_end": null,
"cds_length": 540,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "ENST00000650772.1",
"protein_id": "ENSP00000498688.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 168,
"cds_start": 99,
"cds_end": null,
"cds_length": 509,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly",
"transcript": "NM_001195627.2",
"protein_id": "NP_001182556.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 126,
"cds_start": 99,
"cds_end": null,
"cds_length": 381,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.126C>T",
"hgvs_p": null,
"transcript": "ENST00000471315.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.99C>T",
"hgvs_p": null,
"transcript": "ENST00000495130.5",
"protein_id": "ENSP00000499165.1",
"transcript_support_level": 3,
"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": 744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.99C>T",
"hgvs_p": null,
"transcript": "ENST00000650893.1",
"protein_id": "ENSP00000499068.1",
"transcript_support_level": null,
"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": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.99C>T",
"hgvs_p": null,
"transcript": "ENST00000651298.1",
"protein_id": "ENSP00000498270.1",
"transcript_support_level": null,
"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": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "n.362C>T",
"hgvs_p": null,
"transcript": "NR_136736.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"hgvs_c": "c.-977C>T",
"hgvs_p": null,
"transcript": "NM_001324297.2",
"protein_id": "NP_001311226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
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"cds_length": 2472,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 6,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "MLLT10",
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"protein_id": "ENSP00000397800.2",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "MLLT10",
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"transcript": "ENST00000462999.5",
"protein_id": "ENSP00000498436.1",
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "MLLT10",
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "MLLT10",
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"transcript": "ENST00000480415.6",
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}
],
"gene_symbol": "MLLT10",
"gene_hgnc_id": 16063,
"dbsnp": "rs199515071",
"frequency_reference_population": 0.0002448668,
"hom_count_reference_population": 1,
"allele_count_reference_population": 395,
"gnomad_exomes_af": 0.000249114,
"gnomad_genomes_af": 0.000204025,
"gnomad_exomes_ac": 364,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.726,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001195626.3",
"gene_symbol": "MLLT10",
"hgnc_id": 16063,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.99C>T",
"hgvs_p": "p.Gly33Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}