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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: 19-55346619-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55346619&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55346619,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032701.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "NM_032701.4",
"protein_id": "NP_116090.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255613.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032701.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000255613.8",
"protein_id": "ENSP00000255613.3",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032701.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255613.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Ser161Asn",
"transcript": "ENST00000630497.1",
"protein_id": "ENSP00000486397.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 347,
"cds_start": 482,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630497.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Ser309Asn",
"transcript": "ENST00000943506.1",
"protein_id": "ENSP00000613565.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 495,
"cds_start": 926,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943506.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "NM_001438948.1",
"protein_id": "NP_001425877.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438948.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000885238.1",
"protein_id": "ENSP00000555297.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885238.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000885240.1",
"protein_id": "ENSP00000555299.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885240.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000885241.1",
"protein_id": "ENSP00000555300.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885241.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000885242.1",
"protein_id": "ENSP00000555301.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885242.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000918566.1",
"protein_id": "ENSP00000588625.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918566.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000918567.1",
"protein_id": "ENSP00000588626.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918567.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000918570.1",
"protein_id": "ENSP00000588629.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918570.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"transcript": "ENST00000918571.1",
"protein_id": "ENSP00000588630.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 462,
"cds_start": 827,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918571.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Ser248Asn",
"transcript": "ENST00000885239.1",
"protein_id": "ENSP00000555298.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 434,
"cds_start": 743,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885239.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Ser184Asn",
"transcript": "ENST00000918569.1",
"protein_id": "ENSP00000588628.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 370,
"cds_start": 551,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918569.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Ser166Asn",
"transcript": "ENST00000918568.1",
"protein_id": "ENSP00000588627.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 352,
"cds_start": 497,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918568.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Ser161Asn",
"transcript": "NM_001438949.1",
"protein_id": "NP_001425878.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 347,
"cds_start": 482,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438949.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Ser161Asn",
"transcript": "XM_006723442.4",
"protein_id": "XP_006723505.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 347,
"cds_start": 482,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723442.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Ser112Asn",
"transcript": "XM_047439556.1",
"protein_id": "XP_047295512.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 298,
"cds_start": 335,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.*367G>A",
"hgvs_p": null,
"transcript": "ENST00000445196.5",
"protein_id": "ENSP00000397296.1",
"transcript_support_level": 5,
"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": "ENST00000445196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.581G>A",
"hgvs_p": null,
"transcript": "ENST00000460956.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000460956.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.397G>A",
"hgvs_p": null,
"transcript": "ENST00000474492.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.*367G>A",
"hgvs_p": null,
"transcript": "ENST00000592631.5",
"protein_id": "ENSP00000467499.1",
"transcript_support_level": 3,
"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": "ENST00000592631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.*367G>A",
"hgvs_p": null,
"transcript": "ENST00000445196.5",
"protein_id": "ENSP00000397296.1",
"transcript_support_level": 5,
"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": "ENST00000445196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.*367G>A",
"hgvs_p": null,
"transcript": "ENST00000592631.5",
"protein_id": "ENSP00000467499.1",
"transcript_support_level": 3,
"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": "ENST00000592631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"hgvs_c": "n.*10G>A",
"hgvs_p": null,
"transcript": "ENST00000587442.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000587442.1"
}
],
"gene_symbol": "KMT5C",
"gene_hgnc_id": 28405,
"dbsnp": "rs763292003",
"frequency_reference_population": 0.0000483479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.000045782,
"gnomad_genomes_af": 0.0000722885,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07705676555633545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.293,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032701.4",
"gene_symbol": "KMT5C",
"hgnc_id": 28405,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}