← Back to variant description
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: 15-34236745-CGGAGCATCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34236745&ref=CGGAGCATCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34236745,
"ref": "CGGAGCATCTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000354181.8",
"consequences": [
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs",
"transcript": "NM_001365088.1",
"protein_id": "NP_001352017.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "ENST00000354181.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs",
"transcript": "ENST00000354181.8",
"protein_id": "ENSP00000346112.3",
"transcript_support_level": 1,
"aa_start": 999,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "NM_001365088.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs",
"transcript": "ENST00000560611.5",
"protein_id": "ENSP00000454168.1",
"transcript_support_level": 1,
"aa_start": 999,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2968_2977delCAGATGCTCC",
"hgvs_p": "p.Gln990fs",
"transcript": "ENST00000558589.5",
"protein_id": "ENSP00000452776.1",
"transcript_support_level": 1,
"aa_start": 990,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2968,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2950_2959delCAGATGCTCC",
"hgvs_p": "p.Gln984fs",
"transcript": "ENST00000397707.6",
"protein_id": "ENSP00000380819.2",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2950,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2842_2851delCAGATGCTCC",
"hgvs_p": "p.Gln948fs",
"transcript": "ENST00000290209.9",
"protein_id": "ENSP00000290209.5",
"transcript_support_level": 1,
"aa_start": 948,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2818_2827delCAGATGCTCC",
"hgvs_p": "p.Gln940fs",
"transcript": "ENST00000397702.6",
"protein_id": "ENSP00000380814.2",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2818_2827delCAGATGCTCC",
"hgvs_p": "p.Gln940fs",
"transcript": "ENST00000458406.6",
"protein_id": "ENSP00000387725.2",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 4425,
"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": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*204_*213delCAGATGCTCC",
"hgvs_p": null,
"transcript": "ENST00000559664.5",
"protein_id": "ENSP00000453702.1",
"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": 5111,
"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": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*233_*242delCAGATGCTCC",
"hgvs_p": null,
"transcript": "ENST00000561080.5",
"protein_id": "ENSP00000454069.1",
"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": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*204_*213delCAGATGCTCC",
"hgvs_p": null,
"transcript": "ENST00000559664.5",
"protein_id": "ENSP00000453702.1",
"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": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*233_*242delCAGATGCTCC",
"hgvs_p": null,
"transcript": "ENST00000561080.5",
"protein_id": "ENSP00000454069.1",
"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": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs",
"transcript": "NM_133647.2",
"protein_id": "NP_598408.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs",
"transcript": "ENST00000558667.5",
"protein_id": "ENSP00000453473.1",
"transcript_support_level": 2,
"aa_start": 999,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs",
"transcript": "ENST00000676379.1",
"protein_id": "ENSP00000502539.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2968_2977delCAGATGCTCC",
"hgvs_p": "p.Gln990fs",
"transcript": "NM_001042496.2",
"protein_id": "NP_001035961.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2968,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2950_2959delCAGATGCTCC",
"hgvs_p": "p.Gln984fs",
"transcript": "NM_001042497.2",
"protein_id": "NP_001035962.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2950,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 7841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2842_2851delCAGATGCTCC",
"hgvs_p": "p.Gln948fs",
"transcript": "NM_005135.2",
"protein_id": "NP_005126.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2818_2827delCAGATGCTCC",
"hgvs_p": "p.Gln940fs",
"transcript": "NM_001042494.2",
"protein_id": "NP_001035959.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2818_2827delCAGATGCTCC",
"hgvs_p": "p.Gln940fs",
"transcript": "NM_001042495.2",
"protein_id": "NP_001035960.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 7568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2431_2440delCAGATGCTCC",
"hgvs_p": "p.Gln811fs",
"transcript": "ENST00000560164.5",
"protein_id": "ENSP00000452705.1",
"transcript_support_level": 2,
"aa_start": 811,
"aa_end": null,
"aa_length": 962,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2848_2857delCAGATGCTCC",
"hgvs_p": "p.Gln950fs",
"transcript": "XM_006720793.5",
"protein_id": "XP_006720856.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3193,
"cdna_end": null,
"cdna_length": 7739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QMLR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2695_2704delCAGATGCTCC",
"hgvs_p": "p.Gln899fs",
"transcript": "XM_047433396.1",
"protein_id": "XP_047289352.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2695,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 7392,
"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": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*18_*27delCAGATGCTCC",
"hgvs_p": null,
"transcript": "ENST00000559523.5",
"protein_id": "ENSP00000452904.1",
"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": 4454,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.3360_3369delCAGATGCTCC",
"hgvs_p": null,
"transcript": "XR_931960.4",
"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": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*18_*27delCAGATGCTCC",
"hgvs_p": null,
"transcript": "ENST00000559523.5",
"protein_id": "ENSP00000452904.1",
"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": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"dbsnp": "rs606231158",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000354181.8",
"gene_symbol": "SLC12A6",
"hgnc_id": 10914,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2995_3004delCAGATGCTCC",
"hgvs_p": "p.Gln999fs"
}
],
"clinvar_disease": "Agenesis of the corpus callosum with peripheral neuropathy,Charcot-Marie-Tooth disease",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Agenesis of the corpus callosum with peripheral neuropathy|Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}