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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: 18-13734511-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=13734511&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 13734511,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001308263.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "NM_003799.3",
"protein_id": "NP_003790.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": "ENST00000383314.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003799.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000383314.7",
"protein_id": "ENSP00000372804.2",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": "NM_003799.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383314.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000543302.6",
"protein_id": "ENSP00000446426.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543302.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000589866.5",
"protein_id": "ENSP00000466252.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589866.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "NM_001308263.2",
"protein_id": "NP_001295192.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 504,
"cds_start": 465,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308263.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "NM_001378134.1",
"protein_id": "NP_001365063.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 504,
"cds_start": 465,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378134.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000592764.5",
"protein_id": "ENSP00000466111.1",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 504,
"cds_start": 465,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592764.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000907443.1",
"protein_id": "ENSP00000577502.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 483,
"cds_start": 465,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907443.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000916360.1",
"protein_id": "ENSP00000586419.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 483,
"cds_start": 465,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916360.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "NM_001378135.1",
"protein_id": "NP_001365064.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378135.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000262173.7",
"protein_id": "ENSP00000262173.3",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262173.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000907444.1",
"protein_id": "ENSP00000577503.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907444.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000907445.1",
"protein_id": "ENSP00000577504.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907445.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "ENST00000916361.1",
"protein_id": "ENSP00000586420.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 431,
"cds_start": 465,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916361.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "XM_011525749.3",
"protein_id": "XP_011524051.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 512,
"cds_start": 465,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525749.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "XM_011525750.3",
"protein_id": "XP_011524052.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 512,
"cds_start": 465,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525750.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "XM_011525751.2",
"protein_id": "XP_011524053.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 512,
"cds_start": 465,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525751.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "XM_047437907.1",
"protein_id": "XP_047293863.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 504,
"cds_start": 465,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437907.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu",
"transcript": "XM_047437908.1",
"protein_id": "XP_047293864.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 476,
"cds_start": 465,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.-70A>G",
"hgvs_p": null,
"transcript": "NM_001378132.1",
"protein_id": "NP_001365061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "c.-70A>G",
"hgvs_p": null,
"transcript": "XM_011525753.3",
"protein_id": "XP_011524055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525753.3"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "n.-70A>G",
"hgvs_p": null,
"transcript": "ENST00000588457.5",
"protein_id": "ENSP00000467171.1",
"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": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588457.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "n.693A>G",
"hgvs_p": null,
"transcript": "NR_165427.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"hgvs_c": "n.-70A>G",
"hgvs_p": null,
"transcript": "ENST00000588457.5",
"protein_id": "ENSP00000467171.1",
"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": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588457.5"
}
],
"gene_symbol": "RNMT",
"gene_hgnc_id": 10075,
"dbsnp": "rs563526257",
"frequency_reference_population": 0.00012455707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 201,
"gnomad_exomes_af": 0.000132067,
"gnomad_genomes_af": 0.0000525141,
"gnomad_exomes_ac": 193,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.595,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001308263.2",
"gene_symbol": "RNMT",
"hgnc_id": 10075,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Glu155Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}