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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: 19-47260408-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47260408&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47260408,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015603.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "NM_015603.3",
"protein_id": "NP_056418.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 531,
"cds_start": 196,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221922.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015603.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000221922.11",
"protein_id": "ENSP00000221922.5",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 531,
"cds_start": 196,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015603.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221922.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.-117G>A",
"hgvs_p": null,
"transcript": "XM_047438586.1",
"protein_id": "XP_047294542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438586.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000643617.1",
"protein_id": "ENSP00000494410.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 587,
"cds_start": 196,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643617.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000851059.1",
"protein_id": "ENSP00000521127.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 575,
"cds_start": 196,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851059.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000925674.1",
"protein_id": "ENSP00000595733.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 531,
"cds_start": 196,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925674.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000925675.1",
"protein_id": "ENSP00000595734.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 530,
"cds_start": 196,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925675.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Met",
"transcript": "ENST00000878859.1",
"protein_id": "ENSP00000548918.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 522,
"cds_start": 169,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878859.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Met",
"transcript": "ENST00000957309.1",
"protein_id": "ENSP00000627368.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 522,
"cds_start": 169,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957309.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000878860.1",
"protein_id": "ENSP00000548919.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 521,
"cds_start": 196,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878860.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Val31Met",
"transcript": "ENST00000925672.1",
"protein_id": "ENSP00000595731.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 496,
"cds_start": 91,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925672.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000925673.1",
"protein_id": "ENSP00000595732.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925673.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "ENST00000599398.5",
"protein_id": "ENSP00000469717.1",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 127,
"cds_start": 196,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599398.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_047438580.1",
"protein_id": "XP_047294536.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 587,
"cds_start": 196,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438580.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_047438581.1",
"protein_id": "XP_047294537.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 587,
"cds_start": 196,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438581.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_047438582.1",
"protein_id": "XP_047294538.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 587,
"cds_start": 196,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438582.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_047438583.1",
"protein_id": "XP_047294539.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 575,
"cds_start": 196,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438583.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_017026578.2",
"protein_id": "XP_016882067.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 531,
"cds_start": 196,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026578.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_047438584.1",
"protein_id": "XP_047294540.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 531,
"cds_start": 196,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438584.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met",
"transcript": "XM_047438585.1",
"protein_id": "XP_047294541.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 505,
"cds_start": 196,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.-117G>A",
"hgvs_p": null,
"transcript": "XM_047438586.1",
"protein_id": "XP_047294542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298666",
"gene_hgnc_id": null,
"hgvs_c": "n.248C>T",
"hgvs_p": null,
"transcript": "ENST00000757162.1",
"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": "ENST00000757162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.*26G>A",
"hgvs_p": null,
"transcript": "ENST00000595659.5",
"protein_id": "ENSP00000470706.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595659.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"hgvs_c": "c.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000596938.1",
"protein_id": "ENSP00000472843.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596938.1"
}
],
"gene_symbol": "CCDC9",
"gene_hgnc_id": 24560,
"dbsnp": "rs769582772",
"frequency_reference_population": 0.0000049750192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000480819,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0445767343044281,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0787,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.641,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015603.3",
"gene_symbol": "CCDC9",
"hgnc_id": 24560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Val66Met"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000757162.1",
"gene_symbol": "ENSG00000298666",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.248C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}