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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: 17-17866341-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17866341&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17866341,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001350332.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "NM_001082968.2",
"protein_id": "NP_001076437.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 507,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": "ENST00000379504.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082968.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000379504.8",
"protein_id": "ENSP00000368818.3",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 507,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": "NM_001082968.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379504.8"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Asn297Asp",
"transcript": "ENST00000581396.6",
"protein_id": "ENSP00000464297.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 457,
"cds_start": 889,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581396.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890541.1",
"protein_id": "ENSP00000560600.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 592,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890541.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890561.1",
"protein_id": "ENSP00000560620.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 588,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890561.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890555.1",
"protein_id": "ENSP00000560614.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 543,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890555.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "NM_001350332.2",
"protein_id": "NP_001337261.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 536,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350332.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890527.1",
"protein_id": "ENSP00000560585.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 536,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890527.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890553.1",
"protein_id": "ENSP00000560612.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 535,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890553.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1021A>G",
"hgvs_p": "p.Asn341Asp",
"transcript": "ENST00000890559.1",
"protein_id": "ENSP00000560618.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 530,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890559.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890537.1",
"protein_id": "ENSP00000560595.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 529,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 5817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890537.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000950983.1",
"protein_id": "ENSP00000621042.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 529,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950983.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890535.1",
"protein_id": "ENSP00000560594.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 528,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890535.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1021A>G",
"hgvs_p": "p.Asn341Asp",
"transcript": "ENST00000950984.1",
"protein_id": "ENSP00000621043.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 523,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950984.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890538.1",
"protein_id": "ENSP00000560596.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 506,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890538.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Asn302Asp",
"transcript": "ENST00000890534.1",
"protein_id": "ENSP00000560592.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 491,
"cds_start": 904,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890534.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "NM_001350333.2",
"protein_id": "NP_001337262.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 487,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350333.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Asn347Asp",
"transcript": "ENST00000890524.1",
"protein_id": "ENSP00000560582.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 487,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890524.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Asn297Asp",
"transcript": "ENST00000890539.1",
"protein_id": "ENSP00000560598.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 486,
"cds_start": 889,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890539.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Asn302Asp",
"transcript": "ENST00000890549.1",
"protein_id": "ENSP00000560607.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 484,
"cds_start": 904,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 5664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890549.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Asn294Asp",
"transcript": "NM_001288786.2",
"protein_id": "NP_001275715.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 483,
"cds_start": 880,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288786.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Asn294Asp",
"transcript": "ENST00000535933.5",
"protein_id": "ENSP00000438621.1",
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{
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{
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{
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{
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{
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{
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],
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},
{
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],
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"biotype": "pseudogene",
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],
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"dbsnp": "rs146446650",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000273977,
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"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051743924617767334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0825,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.074,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001350332.2",
"gene_symbol": "TOM1L2",
"hgnc_id": 11984,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1039A>G",
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},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000781607.1",
"gene_symbol": "ENSG00000301763",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68-2933T>C",
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}
],
"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
}