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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: 15-63060925-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63060925&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63060925,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001365778.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "NM_001018005.2",
"protein_id": "NP_001018005.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 284,
"cds_start": 549,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403994.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018005.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000403994.9",
"protein_id": "ENSP00000385107.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 284,
"cds_start": 549,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018005.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403994.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000267996.11",
"protein_id": "ENSP00000267996.7",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 284,
"cds_start": 549,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267996.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000288398.10",
"protein_id": "ENSP00000288398.6",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 284,
"cds_start": 549,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288398.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000358278.7",
"protein_id": "ENSP00000351022.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 284,
"cds_start": 549,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358278.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000560970.6",
"protein_id": "ENSP00000453062.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 284,
"cds_start": 549,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560970.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.441T>C",
"hgvs_p": "p.Ala147Ala",
"transcript": "ENST00000404484.9",
"protein_id": "ENSP00000384315.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 248,
"cds_start": 441,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404484.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.441T>C",
"hgvs_p": "p.Ala147Ala",
"transcript": "ENST00000317516.12",
"protein_id": "ENSP00000322577.7",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 245,
"cds_start": 441,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317516.12"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.441T>C",
"hgvs_p": "p.Ala147Ala",
"transcript": "ENST00000334895.10",
"protein_id": "ENSP00000334624.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 245,
"cds_start": 441,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334895.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.949T>C",
"hgvs_p": null,
"transcript": "ENST00000558314.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000558314.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000714017.1",
"protein_id": "ENSP00000519307.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 341,
"cds_start": 549,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714017.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001365778.1",
"protein_id": "NP_001352707.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365778.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001407322.1",
"protein_id": "NP_001394251.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407322.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001407323.1",
"protein_id": "NP_001394252.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407323.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001407324.1",
"protein_id": "NP_001394253.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407324.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "ENST00000357980.9",
"protein_id": "ENSP00000350667.4",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357980.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "ENST00000714013.1",
"protein_id": "ENSP00000519303.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714013.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala",
"transcript": "ENST00000940176.1",
"protein_id": "ENSP00000610235.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 326,
"cds_start": 675,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940176.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000942076.1",
"protein_id": "ENSP00000612135.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 317,
"cds_start": 549,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942076.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.645T>C",
"hgvs_p": "p.Ala215Ala",
"transcript": "ENST00000942072.1",
"protein_id": "ENSP00000612131.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 316,
"cds_start": 645,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942072.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "NM_001407325.1",
"protein_id": "NP_001394254.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 311,
"cds_start": 549,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407325.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Ala205Ala",
"transcript": "ENST00000893959.1",
"protein_id": "ENSP00000564018.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 306,
"cds_start": 615,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893959.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.*157T>C",
"hgvs_p": null,
"transcript": "ENST00000558544.5",
"protein_id": "ENSP00000453817.1",
"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": "ENST00000558544.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.*293T>C",
"hgvs_p": null,
"transcript": "ENST00000714016.1",
"protein_id": "ENSP00000519306.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.451-788T>C",
"hgvs_p": null,
"transcript": "ENST00000561395.6",
"protein_id": "ENSP00000453092.2",
"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": "ENST00000561395.6"
}
],
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"dbsnp": "rs199476313",
"frequency_reference_population": 0.000006814715,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000410444,
"gnomad_genomes_af": 0.0000328248,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": 0.1187,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.375,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001365778.1",
"gene_symbol": "TPM1",
"hgnc_id": 12010,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.675T>C",
"hgvs_p": "p.Ala225Ala"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not specified|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}