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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: 1-6040589-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6040589&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6040589,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003636.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000341524.6",
"protein_id": "ENSP00000340824.2",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 382,
"cds_start": 21,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341524.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000378097.6",
"protein_id": "ENSP00000367337.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378097.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000352527.6",
"protein_id": "ENSP00000318772.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 353,
"cds_start": 21,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352527.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000602612.5",
"protein_id": "ENSP00000473602.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 395,
"cds_start": 21,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602612.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000668559.1",
"protein_id": "ENSP00000499361.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 395,
"cds_start": 21,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668559.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "NM_001199860.2",
"protein_id": "NP_001186789.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199860.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "NM_001199861.2",
"protein_id": "NP_001186790.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199861.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "NM_003636.4",
"protein_id": "NP_003627.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003636.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000164247.5",
"protein_id": "ENSP00000164247.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000164247.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000378092.6",
"protein_id": "ENSP00000367332.2",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378092.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000428161.7",
"protein_id": "ENSP00000400285.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428161.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000671676.1",
"protein_id": "ENSP00000499496.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671676.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "NM_172130.3",
"protein_id": "NP_742128.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 353,
"cds_start": 21,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172130.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000666163.1",
"protein_id": "ENSP00000499370.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 353,
"cds_start": 21,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666163.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000669250.1",
"protein_id": "ENSP00000499485.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 353,
"cds_start": 21,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000669250.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000653262.1",
"protein_id": "ENSP00000499434.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 328,
"cds_start": 21,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653262.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000462676.3",
"protein_id": "ENSP00000465785.2",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 197,
"cds_start": 21,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462676.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"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": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000472700.7",
"protein_id": "ENSP00000464860.2",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 178,
"cds_start": 21,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472700.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000656198.1",
"protein_id": "ENSP00000499563.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 160,
"cds_start": 21,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656198.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000378111.6",
"protein_id": "ENSP00000367351.2",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 156,
"cds_start": 21,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378111.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000668706.1",
"protein_id": "ENSP00000499564.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 155,
"cds_start": 21,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668706.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr",
"transcript": "ENST00000655548.1",
"protein_id": "ENSP00000499615.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 147,
"cds_start": 21,
"cds_end": null,
"cds_length": 446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "n.243G>A",
"hgvs_p": null,
"transcript": "ENST00000661248.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000661248.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "n.174G>A",
"hgvs_p": null,
"transcript": "ENST00000665338.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000665338.1"
}
],
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"dbsnp": "rs541930222",
"frequency_reference_population": 0.00023231581,
"hom_count_reference_population": 2,
"allele_count_reference_population": 375,
"gnomad_exomes_af": 0.000238742,
"gnomad_genomes_af": 0.000170655,
"gnomad_exomes_ac": 349,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"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": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.236,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003636.4",
"gene_symbol": "KCNAB2",
"hgnc_id": 6229,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Thr7Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}