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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: 5-62348147-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=62348147&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 62348147,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001098511.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "NM_001098511.3",
"protein_id": "NP_001091981.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 744,
"cds_start": 259,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407818.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098511.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000407818.8",
"protein_id": "ENSP00000385000.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 744,
"cds_start": 259,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098511.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407818.8"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000401507.7",
"protein_id": "ENSP00000385622.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 706,
"cds_start": 259,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401507.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.178A>C",
"hgvs_p": "p.Lys60Gln",
"transcript": "ENST00000381103.7",
"protein_id": "ENSP00000370493.3",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 679,
"cds_start": 178,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381103.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000514082.6",
"protein_id": "ENSP00000423542.2",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 519,
"cds_start": 259,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514082.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288643",
"gene_hgnc_id": null,
"hgvs_c": "n.64+41611A>C",
"hgvs_p": null,
"transcript": "ENST00000509663.2",
"protein_id": "ENSP00000502199.1",
"transcript_support_level": 3,
"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": "ENST00000509663.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000908148.1",
"protein_id": "ENSP00000578207.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 766,
"cds_start": 259,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908148.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000908144.1",
"protein_id": "ENSP00000578203.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 728,
"cds_start": 259,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908144.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000908143.1",
"protein_id": "ENSP00000578202.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 727,
"cds_start": 259,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908143.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000674632.1",
"protein_id": "ENSP00000502498.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 725,
"cds_start": 259,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674632.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.178A>C",
"hgvs_p": "p.Lys60Gln",
"transcript": "ENST00000674733.1",
"protein_id": "ENSP00000502097.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 717,
"cds_start": 178,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674733.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Lys95Gln",
"transcript": "ENST00000908149.1",
"protein_id": "ENSP00000578208.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 714,
"cds_start": 283,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908149.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000908145.1",
"protein_id": "ENSP00000578204.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 709,
"cds_start": 259,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908145.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "NM_004520.5",
"protein_id": "NP_004511.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 706,
"cds_start": 259,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004520.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000927779.1",
"protein_id": "ENSP00000597838.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 704,
"cds_start": 259,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927779.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000927780.1",
"protein_id": "ENSP00000597839.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 701,
"cds_start": 259,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927780.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Lys95Gln",
"transcript": "ENST00000908147.1",
"protein_id": "ENSP00000578206.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 695,
"cds_start": 283,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908147.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000927778.1",
"protein_id": "ENSP00000597837.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 693,
"cds_start": 259,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927778.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "NM_001243953.2",
"protein_id": "NP_001230882.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 687,
"cds_start": 259,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243953.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000676271.1",
"protein_id": "ENSP00000501719.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 687,
"cds_start": 259,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676271.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.178A>C",
"hgvs_p": "p.Lys60Gln",
"transcript": "ENST00000674752.1",
"protein_id": "ENSP00000502272.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 685,
"cds_start": 178,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674752.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Lys87Gln",
"transcript": "ENST00000927777.1",
"protein_id": "ENSP00000597836.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 685,
"cds_start": 259,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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{
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{
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"splice_region_variant"
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{
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{
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{
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],
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],
"gene_symbol": "KIF2A",
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"dbsnp": "rs2111910183",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.329996794462204,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.1999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.829,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098511.3",
"gene_symbol": "KIF2A",
"hgnc_id": 6318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.259A>C",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000509663.2",
"gene_symbol": "ENSG00000288643",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.64+41611A>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651114.1",
"gene_symbol": "DIMT1",
"hgnc_id": 30217,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*1533T>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}