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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: 6-32974633-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32974633&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32974633,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000374825.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "NM_005104.4",
"protein_id": "NP_005095.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 801,
"cds_start": 201,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": "ENST00000374825.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000374825.9",
"protein_id": "ENSP00000363958.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 801,
"cds_start": 201,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": "NM_005104.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000395287.5",
"protein_id": "ENSP00000378702.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 836,
"cds_start": 201,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Ser72Ser",
"transcript": "ENST00000449025.5",
"protein_id": "ENSP00000409613.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 806,
"cds_start": 216,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000374831.8",
"protein_id": "ENSP00000363964.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 801,
"cds_start": 201,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000449085.4",
"protein_id": "ENSP00000409145.3",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 801,
"cds_start": 201,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000607833.5",
"protein_id": "ENSP00000475691.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 551,
"cds_start": 201,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.201C>T",
"hgvs_p": null,
"transcript": "ENST00000482914.5",
"protein_id": "ENSP00000431514.1",
"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": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "NM_001199455.1",
"protein_id": "NP_001186384.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 836,
"cds_start": 201,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "NM_001113182.3",
"protein_id": "NP_001106653.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 801,
"cds_start": 201,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000678250.1",
"protein_id": "ENSP00000502900.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 801,
"cds_start": 201,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Ser20Ser",
"transcript": "NM_001199456.2",
"protein_id": "NP_001186385.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 754,
"cds_start": 60,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"transcript": "ENST00000456339.5",
"protein_id": "ENSP00000411195.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 294,
"cds_start": 204,
"cds_end": null,
"cds_length": 885,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "XM_047419222.1",
"protein_id": "XP_047275178.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 606,
"cds_start": 201,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "XM_047419223.1",
"protein_id": "XP_047275179.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 401,
"cds_start": 201,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.235C>T",
"hgvs_p": null,
"transcript": "ENST00000463639.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.1621C>T",
"hgvs_p": null,
"transcript": "ENST00000464592.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.1663C>T",
"hgvs_p": null,
"transcript": "ENST00000469132.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.201C>T",
"hgvs_p": null,
"transcript": "ENST00000495733.5",
"protein_id": "ENSP00000436322.1",
"transcript_support_level": 2,
"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": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.201C>T",
"hgvs_p": null,
"transcript": "ENST00000677085.1",
"protein_id": "ENSP00000504779.1",
"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": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.1580C>T",
"hgvs_p": null,
"transcript": "ENST00000677331.1",
"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": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.201C>T",
"hgvs_p": null,
"transcript": "ENST00000678778.1",
"protein_id": "ENSP00000503515.1",
"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": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.1621C>T",
"hgvs_p": null,
"transcript": "ENST00000679099.1",
"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": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.201C>T",
"hgvs_p": null,
"transcript": "ENST00000679179.1",
"protein_id": "ENSP00000503678.1",
"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": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.-252C>T",
"hgvs_p": null,
"transcript": "NM_001291986.2",
"protein_id": "NP_001278915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"dbsnp": "rs115120098",
"frequency_reference_population": 0.0012755465,
"hom_count_reference_population": 11,
"allele_count_reference_population": 2059,
"gnomad_exomes_af": 0.000846163,
"gnomad_genomes_af": 0.00539668,
"gnomad_exomes_ac": 1237,
"gnomad_genomes_ac": 822,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04500000178813934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.011,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000374825.9",
"gene_symbol": "BRD2",
"hgnc_id": 1103,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.201C>T",
"hgvs_p": "p.Ser67Ser"
}
],
"clinvar_disease": "BRD2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|BRD2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}