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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: 15-63048622-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63048622&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63048622,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001407340.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "ENST00000404484.9",
"protein_id": "ENSP00000384315.4",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "ENST00000317516.12",
"protein_id": "ENSP00000322577.7",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 245,
"cds_start": 47,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "ENST00000334895.10",
"protein_id": "ENSP00000334624.4",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 245,
"cds_start": 47,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.240+4470G>C",
"hgvs_p": null,
"transcript": "NM_001018005.2",
"protein_id": "NP_001018005.1",
"transcript_support_level": null,
"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": "ENST00000403994.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018005.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.240+4470G>C",
"hgvs_p": null,
"transcript": "ENST00000403994.9",
"protein_id": "ENSP00000385107.4",
"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": "NM_001018005.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403994.9"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.240+4791G>C",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.240+4470G>C",
"hgvs_p": null,
"transcript": "ENST00000288398.10",
"protein_id": "ENSP00000288398.6",
"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": "ENST00000288398.10"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.240+4470G>C",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.240+4470G>C",
"hgvs_p": null,
"transcript": "ENST00000560970.6",
"protein_id": "ENSP00000453062.2",
"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": "ENST00000560970.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1-AS",
"gene_hgnc_id": 53635,
"hgvs_c": "n.482C>G",
"hgvs_p": null,
"transcript": "ENST00000560903.1",
"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": "pseudogene",
"feature": "ENST00000560903.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.640+4470G>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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001407340.1",
"protein_id": "NP_001394269.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 275,
"cds_start": 47,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407340.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001407341.1",
"protein_id": "NP_001394270.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 275,
"cds_start": 47,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407341.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "ENST00000560959.5",
"protein_id": "ENSP00000453724.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 275,
"cds_start": 47,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560959.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001365780.1",
"protein_id": "NP_001352709.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 251,
"cds_start": 47,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365780.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001407342.1",
"protein_id": "NP_001394271.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 251,
"cds_start": 47,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407342.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001301289.2",
"protein_id": "NP_001288218.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "NM_001301289.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001330344.2",
"protein_id": "NP_001317273.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "NM_001330344.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001330346.2",
"protein_id": "NP_001317275.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "NM_001330346.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001365781.2",
"protein_id": "NP_001352710.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "NM_001365781.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001365782.1",
"protein_id": "NP_001352711.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "NM_001365782.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "NM_001407344.1",
"protein_id": "NP_001394273.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 248,
"cds_start": 47,
"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": "NM_001407344.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
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{
"aa_ref": null,
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"strand": true,
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],
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{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"gene_symbol": "TPM1",
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"hgvs_c": "c.-1129G>C",
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"transcript": "ENST00000651577.1",
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"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651577.1"
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],
"gene_symbol": "TPM1",
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"dbsnp": "rs199476308",
"frequency_reference_population": 7.2293824e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.22938e-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": 0.19511950016021729,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.704,
"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": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001407340.1",
"gene_symbol": "TPM1",
"hgnc_id": 12010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ser16Thr"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000560903.1",
"gene_symbol": "TPM1-AS",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.482C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}