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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: 19-1430304-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1430304&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1430304,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_018959.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro",
"transcript": "NM_018959.4",
"protein_id": "NP_061832.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 407,
"cds_start": 813,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233078.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018959.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro",
"transcript": "ENST00000233078.9",
"protein_id": "ENSP00000233078.4",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 407,
"cds_start": 813,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018959.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233078.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.1002T>C",
"hgvs_p": "p.Pro334Pro",
"transcript": "ENST00000875652.1",
"protein_id": "ENSP00000545711.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 470,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875652.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.999T>C",
"hgvs_p": "p.Pro333Pro",
"transcript": "ENST00000918388.1",
"protein_id": "ENSP00000588447.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 469,
"cds_start": 999,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918388.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.945T>C",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000918387.1",
"protein_id": "ENSP00000588446.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 451,
"cds_start": 945,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918387.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.942T>C",
"hgvs_p": "p.Pro314Pro",
"transcript": "ENST00000875651.1",
"protein_id": "ENSP00000545710.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 450,
"cds_start": 942,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875651.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.945T>C",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000918391.1",
"protein_id": "ENSP00000588450.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 450,
"cds_start": 945,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918391.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.933T>C",
"hgvs_p": "p.Pro311Pro",
"transcript": "ENST00000918396.1",
"protein_id": "ENSP00000588455.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 447,
"cds_start": 933,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918396.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.849T>C",
"hgvs_p": "p.Pro283Pro",
"transcript": "ENST00000875646.1",
"protein_id": "ENSP00000545705.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 419,
"cds_start": 849,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875646.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.849T>C",
"hgvs_p": "p.Pro283Pro",
"transcript": "ENST00000875649.1",
"protein_id": "ENSP00000545708.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 418,
"cds_start": 849,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875649.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.846T>C",
"hgvs_p": "p.Pro282Pro",
"transcript": "ENST00000959431.1",
"protein_id": "ENSP00000629490.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 417,
"cds_start": 846,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959431.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.849T>C",
"hgvs_p": "p.Pro283Pro",
"transcript": "ENST00000875645.1",
"protein_id": "ENSP00000545704.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 416,
"cds_start": 849,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875645.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Pro272Pro",
"transcript": "ENST00000918392.1",
"protein_id": "ENSP00000588451.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 407,
"cds_start": 816,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918392.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.810T>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "NM_001352033.2",
"protein_id": "NP_001338962.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 406,
"cds_start": 810,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352033.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro",
"transcript": "NM_001352034.2",
"protein_id": "NP_001338963.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 406,
"cds_start": 813,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352034.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.810T>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000587079.5",
"protein_id": "ENSP00000465433.2",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 406,
"cds_start": 810,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587079.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro",
"transcript": "ENST00000592522.5",
"protein_id": "ENSP00000467680.2",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 406,
"cds_start": 813,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592522.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.810T>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000875641.1",
"protein_id": "ENSP00000545700.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 405,
"cds_start": 810,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875641.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro",
"transcript": "ENST00000875643.1",
"protein_id": "ENSP00000545702.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 404,
"cds_start": 813,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875643.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.810T>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000875642.1",
"protein_id": "ENSP00000545701.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 403,
"cds_start": 810,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875642.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro",
"transcript": "ENST00000875644.1",
"protein_id": "ENSP00000545703.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 403,
"cds_start": 813,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875644.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.810T>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000875640.1",
"protein_id": "ENSP00000545699.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 402,
"cds_start": 810,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047438593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.2760T>C",
"hgvs_p": null,
"transcript": "ENST00000585485.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000585485.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.2231T>C",
"hgvs_p": null,
"transcript": "ENST00000589484.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000589484.5"
}
],
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"dbsnp": "rs113778676",
"frequency_reference_population": 0.0023960567,
"hom_count_reference_population": 68,
"allele_count_reference_population": 3110,
"gnomad_exomes_af": 0.00125891,
"gnomad_genomes_af": 0.0123181,
"gnomad_exomes_ac": 1466,
"gnomad_genomes_ac": 1644,
"gnomad_exomes_homalt": 33,
"gnomad_genomes_homalt": 35,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.925,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018959.4",
"gene_symbol": "DAZAP1",
"hgnc_id": 2683,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.813T>C",
"hgvs_p": "p.Pro271Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}