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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: 19-58562737-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58562737&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58562737,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000215057.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Gly514Ser",
"transcript": "NM_198055.2",
"protein_id": "NP_932172.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 734,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": "ENST00000215057.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Gly514Ser",
"transcript": "ENST00000215057.7",
"protein_id": "ENSP00000215057.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 734,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": "NM_198055.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Gly514Ser",
"transcript": "ENST00000599369.5",
"protein_id": "ENSP00000469493.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 734,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000594234.5",
"protein_id": "ENSP00000469378.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.185+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000600534.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Gly514Ser",
"transcript": "NM_003422.3",
"protein_id": "NP_003413.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 734,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Gly555Ser",
"transcript": "XM_005259204.4",
"protein_id": "XP_005259261.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 775,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Gly555Ser",
"transcript": "XM_047439312.1",
"protein_id": "XP_047295268.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 775,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Gly555Ser",
"transcript": "XM_047439313.1",
"protein_id": "XP_047295269.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 775,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Gly544Ser",
"transcript": "XM_011527264.4",
"protein_id": "XP_011525566.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 764,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"transcript": "XM_017027206.2",
"protein_id": "XP_016882695.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 450,
"cds_start": 688,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "n.1877G>A",
"hgvs_p": null,
"transcript": "ENST00000600004.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001267033.2",
"protein_id": "NP_001253962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.281+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000593642.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.285+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000600726.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.201+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000653470.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.283+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000716556.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.214+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000789831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.274+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000789846.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.211+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000789851.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.278+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000789874.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.217+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000789875.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.265+3328C>T",
"hgvs_p": null,
"transcript": "ENST00000789876.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 446,
"mane_select": null,
"mane_plus": null,
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},
{
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"cds_start": -4,
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},
{
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"intron_variant"
],
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"gene_symbol": "MZF1-AS1",
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}
],
"gene_symbol": "MZF1",
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"dbsnp": "rs150590904",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.22554e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09772998094558716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.396,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000215057.7",
"gene_symbol": "MZF1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Gly514Ser"
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000600534.1",
"gene_symbol": "MZF1-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185+3328C>T",
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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
}