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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: 15-34233934-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34233934&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34233934,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_133647.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Arg1134*",
"transcript": "NM_001365088.1",
"protein_id": "NP_001352017.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "ENST00000354181.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365088.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Arg1134*",
"transcript": "ENST00000354181.8",
"protein_id": "ENSP00000346112.3",
"transcript_support_level": 1,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "NM_001365088.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354181.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Arg1134*",
"transcript": "ENST00000560611.5",
"protein_id": "ENSP00000454168.1",
"transcript_support_level": 1,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560611.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3373C>T",
"hgvs_p": "p.Arg1125*",
"transcript": "ENST00000558589.5",
"protein_id": "ENSP00000452776.1",
"transcript_support_level": 1,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558589.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3355C>T",
"hgvs_p": "p.Arg1119*",
"transcript": "ENST00000397707.6",
"protein_id": "ENSP00000380819.2",
"transcript_support_level": 1,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3519,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397707.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083*",
"transcript": "ENST00000290209.9",
"protein_id": "ENSP00000290209.5",
"transcript_support_level": 1,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290209.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Arg1075*",
"transcript": "ENST00000397702.6",
"protein_id": "ENSP00000380814.2",
"transcript_support_level": 1,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3421,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397702.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Arg1075*",
"transcript": "ENST00000458406.6",
"protein_id": "ENSP00000387725.2",
"transcript_support_level": 1,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458406.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*609C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559664.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*638C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561080.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*609C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559664.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.*638C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561080.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Arg1134*",
"transcript": "NM_133647.2",
"protein_id": "NP_598408.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133647.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Arg1134*",
"transcript": "ENST00000558667.5",
"protein_id": "ENSP00000453473.1",
"transcript_support_level": 2,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558667.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3373C>T",
"hgvs_p": "p.Arg1125*",
"transcript": "NM_001042496.2",
"protein_id": "NP_001035961.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042496.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3355C>T",
"hgvs_p": "p.Arg1119*",
"transcript": "NM_001042497.2",
"protein_id": "NP_001035962.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 7841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042497.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083*",
"transcript": "NM_005135.2",
"protein_id": "NP_005126.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005135.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Arg1075*",
"transcript": "NM_001042494.2",
"protein_id": "NP_001035959.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3771,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042494.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3223C>T",
"hgvs_p": "p.Arg1075*",
"transcript": "NM_001042495.2",
"protein_id": "NP_001035960.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3418,
"cdna_end": null,
"cdna_length": 7568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042495.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.2836C>T",
"hgvs_p": "p.Arg946*",
"transcript": "ENST00000560164.5",
"protein_id": "ENSP00000452705.1",
"transcript_support_level": 2,
"aa_start": 946,
"aa_end": null,
"aa_length": 962,
"cds_start": 2836,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560164.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3253C>T",
"hgvs_p": "p.Arg1085*",
"transcript": "XM_006720793.5",
"protein_id": "XP_006720856.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3589,
"cdna_end": null,
"cdna_length": 7739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720793.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.3100C>T",
"hgvs_p": "p.Arg1034*",
"transcript": "XM_047433396.1",
"protein_id": "XP_047289352.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
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{
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{
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{
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559523.5"
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],
"gene_symbol": "SLC12A6",
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"dbsnp": "rs606231229",
"frequency_reference_population": 0.0000020630184,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000206302,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.589,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1_Moderate",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_133647.2",
"gene_symbol": "SLC12A6",
"hgnc_id": 10914,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Arg1134*"
}
],
"clinvar_disease": "Agenesis of the corpus callosum with peripheral neuropathy,Charcot-Marie-Tooth disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Agenesis of the corpus callosum with peripheral neuropathy|Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}