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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: 7-117136208-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117136208&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117136208,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021908.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "NM_001369598.1",
"protein_id": "NP_001356527.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 577,
"cds_start": 838,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": "ENST00000323984.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369598.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000323984.8",
"protein_id": "ENSP00000325673.3",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 577,
"cds_start": 838,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": "NM_001369598.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323984.8"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000265437.9",
"protein_id": "ENSP00000265437.5",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 585,
"cds_start": 838,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265437.9"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.His257Asn",
"transcript": "ENST00000393451.7",
"protein_id": "ENSP00000377097.3",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 554,
"cds_start": 769,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393451.7"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.709C>A",
"hgvs_p": "p.His237Asn",
"transcript": "ENST00000393447.8",
"protein_id": "ENSP00000377093.4",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 534,
"cds_start": 709,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393447.8"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.640C>A",
"hgvs_p": "p.His214Asn",
"transcript": "ENST00000393444.7",
"protein_id": "ENSP00000377090.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 511,
"cds_start": 640,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393444.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "n.410C>A",
"hgvs_p": null,
"transcript": "ENST00000489293.5",
"protein_id": null,
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.250+7959G>T",
"hgvs_p": null,
"transcript": "ENST00000432541.5",
"protein_id": null,
"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": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000432541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.253-5521G>T",
"hgvs_p": null,
"transcript": "ENST00000434993.5",
"protein_id": null,
"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": 918,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000434993.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000903533.1",
"protein_id": "ENSP00000573592.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 609,
"cds_start": 838,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903533.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "NM_021908.3",
"protein_id": "NP_068708.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 585,
"cds_start": 838,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021908.3"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.832C>A",
"hgvs_p": "p.His278Asn",
"transcript": "ENST00000946966.1",
"protein_id": "ENSP00000617025.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 575,
"cds_start": 832,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946966.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "NM_001369601.1",
"protein_id": "NP_001356530.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 572,
"cds_start": 838,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369601.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000393449.5",
"protein_id": "ENSP00000377095.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 572,
"cds_start": 838,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393449.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.His257Asn",
"transcript": "NM_001369604.1",
"protein_id": "NP_001356533.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 562,
"cds_start": 769,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369604.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.His228Asn",
"transcript": "ENST00000490039.1",
"protein_id": "ENSP00000419516.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 560,
"cds_start": 682,
"cds_end": null,
"cds_length": 1684,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490039.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.His257Asn",
"transcript": "ENST00000446490.5",
"protein_id": "ENSP00000402934.1",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 557,
"cds_start": 769,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446490.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.His257Asn",
"transcript": "NM_018412.4",
"protein_id": "NP_060882.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 554,
"cds_start": 769,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018412.4"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.His257Asn",
"transcript": "ENST00000903532.1",
"protein_id": "ENSP00000573591.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 549,
"cds_start": 769,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903532.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000923796.1",
"protein_id": "ENSP00000593855.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 546,
"cds_start": 838,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923796.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.709C>A",
"hgvs_p": "p.His237Asn",
"transcript": "NM_001369599.1",
"protein_id": "NP_001356528.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 534,
"cds_start": 709,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369599.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000946967.1",
"protein_id": "ENSP00000617026.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 533,
"cds_start": 838,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946967.1"
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST7",
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"hgvs_c": "n.152-34654C>A",
"hgvs_p": null,
"transcript": "ENST00000443979.5",
"protein_id": "ENSP00000392876.1",
"transcript_support_level": 5,
"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": 805,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.285-5521G>T",
"hgvs_p": null,
"transcript": "NR_002331.3",
"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": 950,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_002331.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST7-AS2",
"gene_hgnc_id": 16044,
"hgvs_c": "n.284+7959G>T",
"hgvs_p": null,
"transcript": "NR_109981.1",
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109981.1"
}
],
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"dbsnp": null,
"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": 0.3840654492378235,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.2831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.407,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021908.3",
"gene_symbol": "ST7",
"hgnc_id": 11351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000432541.5",
"gene_symbol": "ST7-AS2",
"hgnc_id": 16044,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.250+7959G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}