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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: 15-63064099-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63064099&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63064099,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001407322.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "NM_001018005.2",
"protein_id": "NP_001018005.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 284,
"cds_start": 808,
"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": "I",
"aa_alt": "V",
"canonical": true,
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "ENST00000403994.9",
"protein_id": "ENSP00000385107.4",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 284,
"cds_start": 808,
"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": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "ENST00000288398.10",
"protein_id": "ENSP00000288398.6",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 284,
"cds_start": 808,
"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": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "ENST00000560970.6",
"protein_id": "ENSP00000453062.2",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 284,
"cds_start": 808,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.772+1454A>G",
"hgvs_p": null,
"transcript": "ENST00000267996.11",
"protein_id": "ENSP00000267996.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.772+1454A>G",
"hgvs_p": null,
"transcript": "ENST00000358278.7",
"protein_id": "ENSP00000351022.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.664+1454A>G",
"hgvs_p": null,
"transcript": "ENST00000404484.9",
"protein_id": "ENSP00000384315.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.664+1454A>G",
"hgvs_p": null,
"transcript": "ENST00000317516.12",
"protein_id": "ENSP00000322577.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.664+1454A>G",
"hgvs_p": null,
"transcript": "ENST00000334895.10",
"protein_id": "ENSP00000334624.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "ENST00000714017.1",
"protein_id": "ENSP00000519307.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 341,
"cds_start": 808,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Ile312Val",
"transcript": "NM_001407322.1",
"protein_id": "NP_001394251.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 326,
"cds_start": 934,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Ile312Val",
"transcript": "NM_001407323.1",
"protein_id": "NP_001394252.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 326,
"cds_start": 934,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Ile312Val",
"transcript": "NM_001407324.1",
"protein_id": "NP_001394253.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 326,
"cds_start": 934,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Ile312Val",
"transcript": "ENST00000714013.1",
"protein_id": "ENSP00000519303.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 326,
"cds_start": 934,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Ile312Val",
"transcript": "ENST00000940176.1",
"protein_id": "ENSP00000610235.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 326,
"cds_start": 934,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.907A>G",
"hgvs_p": "p.Ile303Val",
"transcript": "ENST00000942076.1",
"protein_id": "ENSP00000612135.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 317,
"cds_start": 907,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "ENST00000942072.1",
"protein_id": "ENSP00000612131.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 316,
"cds_start": 904,
"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": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000893959.1",
"protein_id": "ENSP00000564018.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 306,
"cds_start": 874,
"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": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000893960.1",
"protein_id": "ENSP00000564019.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 306,
"cds_start": 874,
"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": "ENST00000893960.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Ile291Val",
"transcript": "ENST00000942079.1",
"protein_id": "ENSP00000612138.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 305,
"cds_start": 871,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942079.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "NM_001407326.1",
"protein_id": "NP_001394255.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 294,
"cds_start": 808,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407326.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Ile270Val",
"transcript": "NM_000366.6",
"protein_id": "NP_000357.3",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 284,
"cds_start": 808,
"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": "NM_000366.6"
},
{
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"biotype": "pseudogene",
"feature": "NR_176349.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "TPM1",
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"hgvs_c": "n.827+1454A>G",
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"transcript": "NR_176350.1",
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"biotype": "pseudogene",
"feature": "NR_176350.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "TPM1",
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"hgvs_c": "n.827+1454A>G",
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"transcript": "NR_176352.1",
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"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": "NR_176352.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.751+1454A>G",
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"transcript": "NR_176353.1",
"protein_id": null,
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"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": "NR_176353.1"
}
],
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"dbsnp": "rs1555410445",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05279364064335823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.537,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0917,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001407322.1",
"gene_symbol": "TPM1",
"hgnc_id": 12010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Ile312Val"
}
],
"clinvar_disease": "Hypertrophic cardiomyopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}