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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: 7-152162598-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152162598&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 152162598,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262189.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.10979C>T",
"hgvs_p": "p.Ser3660Leu",
"transcript": "NM_170606.3",
"protein_id": "NP_733751.2",
"transcript_support_level": null,
"aa_start": 3660,
"aa_end": null,
"aa_length": 4911,
"cds_start": 10979,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 11196,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "ENST00000262189.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.10979C>T",
"hgvs_p": "p.Ser3660Leu",
"transcript": "ENST00000262189.11",
"protein_id": "ENSP00000262189.6",
"transcript_support_level": 1,
"aa_start": 3660,
"aa_end": null,
"aa_length": 4911,
"cds_start": 10979,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 11196,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "NM_170606.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.6599C>T",
"hgvs_p": "p.Ser2200Leu",
"transcript": "ENST00000360104.8",
"protein_id": "ENSP00000353218.4",
"transcript_support_level": 1,
"aa_start": 2200,
"aa_end": null,
"aa_length": 3475,
"cds_start": 6599,
"cds_end": null,
"cds_length": 10428,
"cdna_start": 6601,
"cdna_end": null,
"cdna_length": 14292,
"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": 29,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.8690C>T",
"hgvs_p": null,
"transcript": "ENST00000473186.5",
"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": 12854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.10979C>T",
"hgvs_p": "p.Ser3660Leu",
"transcript": "ENST00000682283.1",
"protein_id": "ENSP00000507485.1",
"transcript_support_level": null,
"aa_start": 3660,
"aa_end": null,
"aa_length": 4968,
"cds_start": 10979,
"cds_end": null,
"cds_length": 14907,
"cdna_start": 10979,
"cdna_end": null,
"cdna_length": 15426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.10754C>T",
"hgvs_p": "p.Ser3585Leu",
"transcript": "ENST00000679882.1",
"protein_id": "ENSP00000506154.1",
"transcript_support_level": null,
"aa_start": 3585,
"aa_end": null,
"aa_length": 4762,
"cds_start": 10754,
"cds_end": null,
"cds_length": 14289,
"cdna_start": 10904,
"cdna_end": null,
"cdna_length": 14469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.8327C>T",
"hgvs_p": "p.Ser2776Leu",
"transcript": "ENST00000683200.1",
"protein_id": "ENSP00000508052.1",
"transcript_support_level": null,
"aa_start": 2776,
"aa_end": null,
"aa_length": 4054,
"cds_start": 8327,
"cds_end": null,
"cds_length": 12165,
"cdna_start": 8327,
"cdna_end": null,
"cdna_length": 15972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5714C>T",
"hgvs_p": "p.Ser1905Leu",
"transcript": "ENST00000680877.1",
"protein_id": "ENSP00000505724.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 3211,
"cds_start": 5714,
"cds_end": null,
"cds_length": 9636,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 11540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5714C>T",
"hgvs_p": "p.Ser1905Leu",
"transcript": "ENST00000679560.1",
"protein_id": "ENSP00000505094.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 3207,
"cds_start": 5714,
"cds_end": null,
"cds_length": 9624,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 11523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5714C>T",
"hgvs_p": "p.Ser1905Leu",
"transcript": "ENST00000684261.1",
"protein_id": "ENSP00000508097.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 3206,
"cds_start": 5714,
"cds_end": null,
"cds_length": 9621,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 10473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.8375C>T",
"hgvs_p": "p.Ser2792Leu",
"transcript": "ENST00000680969.1",
"protein_id": "ENSP00000505951.1",
"transcript_support_level": null,
"aa_start": 2792,
"aa_end": null,
"aa_length": 2951,
"cds_start": 8375,
"cds_end": null,
"cds_length": 8856,
"cdna_start": 8375,
"cdna_end": null,
"cdna_length": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5714C>T",
"hgvs_p": "p.Ser1905Leu",
"transcript": "ENST00000683670.1",
"protein_id": "ENSP00000507634.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2151,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6456,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5618C>T",
"hgvs_p": "p.Ser1873Leu",
"transcript": "ENST00000684398.1",
"protein_id": "ENSP00000507254.1",
"transcript_support_level": null,
"aa_start": 1873,
"aa_end": null,
"aa_length": 2102,
"cds_start": 5618,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 5618,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.5192C>T",
"hgvs_p": "p.Ser1731Leu",
"transcript": "ENST00000683625.1",
"protein_id": "ENSP00000507769.1",
"transcript_support_level": null,
"aa_start": 1731,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5192,
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"cds_length": 5883,
"cdna_start": 5192,
"cdna_end": null,
"cdna_length": 5883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Ser487Leu",
"transcript": "ENST00000684649.1",
"protein_id": "ENSP00000508306.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1792,
"cds_start": 1460,
"cds_end": null,
"cds_length": 5379,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 5587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Ser487Leu",
"transcript": "ENST00000418061.2",
"protein_id": "ENSP00000408001.2",
"transcript_support_level": 5,
"aa_start": 487,
"aa_end": null,
"aa_length": 1791,
"cds_start": 1460,
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"cdna_start": 1462,
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"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Ser487Leu",
"transcript": "ENST00000683502.1",
"protein_id": "ENSP00000506844.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1788,
"cds_start": 1460,
"cds_end": null,
"cds_length": 5367,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 6590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Ser487Leu",
"transcript": "ENST00000424877.6",
"protein_id": "ENSP00000410411.2",
"transcript_support_level": 5,
"aa_start": 487,
"aa_end": null,
"aa_length": 1765,
"cds_start": 1460,
"cds_end": null,
"cds_length": 5298,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 7203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Ser487Leu",
"transcript": "ENST00000683178.1",
"protein_id": "ENSP00000507112.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1764,
"cds_start": 1460,
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"cds_length": 5295,
"cdna_start": 1462,
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"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": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.4470C>T",
"hgvs_p": null,
"transcript": "ENST00000679393.1",
"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": 11300,
"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": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.1460C>T",
"hgvs_p": null,
"transcript": "ENST00000680029.1",
"protein_id": "ENSP00000506700.1",
"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": 7126,
"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": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.2965C>T",
"hgvs_p": null,
"transcript": "ENST00000683120.1",
"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": 11814,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
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"transcript": "ENST00000683397.1",
"protein_id": "ENSP00000507053.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 6428,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
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"hgvs_c": "n.*1234C>T",
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"transcript": "ENST00000684307.1",
"protein_id": "ENSP00000507202.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6341,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.*1234C>T",
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"transcript": "ENST00000683397.1",
"protein_id": "ENSP00000507053.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6428,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.*1234C>T",
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"transcript": "ENST00000684307.1",
"protein_id": "ENSP00000507202.1",
"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": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.-169C>T",
"hgvs_p": null,
"transcript": "ENST00000681923.1",
"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": 5895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"dbsnp": "rs74483926",
"frequency_reference_population": 0.04444659,
"hom_count_reference_population": 2196,
"allele_count_reference_population": 71744,
"gnomad_exomes_af": 0.0453406,
"gnomad_genomes_af": 0.0358653,
"gnomad_exomes_ac": 66282,
"gnomad_genomes_ac": 5462,
"gnomad_exomes_homalt": 2038,
"gnomad_genomes_homalt": 158,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0015626251697540283,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.965,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262189.11",
"gene_symbol": "KMT2C",
"hgnc_id": 13726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.10979C>T",
"hgvs_p": "p.Ser3660Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3 O:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}