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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: X-17749482-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=17749482&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 17749482,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001037540.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "NM_001037540.3",
"protein_id": "NP_001032629.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 329,
"cds_start": 281,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380041.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037540.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000380041.8",
"protein_id": "ENSP00000369380.3",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 329,
"cds_start": 281,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037540.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380041.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000380043.7",
"protein_id": "ENSP00000369382.3",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380043.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"transcript": "ENST00000380045.7",
"protein_id": "ENSP00000369384.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380045.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"transcript": "ENST00000398080.5",
"protein_id": "ENSP00000381154.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398080.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "n.2313C>T",
"hgvs_p": null,
"transcript": "ENST00000487842.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487842.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000895838.1",
"protein_id": "ENSP00000565897.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 329,
"cds_start": 281,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895838.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000918260.1",
"protein_id": "ENSP00000588319.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 329,
"cds_start": 281,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918260.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "NM_006746.6",
"protein_id": "NP_006737.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006746.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000895837.1",
"protein_id": "ENSP00000565896.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895837.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000895839.1",
"protein_id": "ENSP00000565898.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895839.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000895840.1",
"protein_id": "ENSP00000565899.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895840.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000918259.1",
"protein_id": "ENSP00000588318.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918259.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000419185.1",
"protein_id": "ENSP00000392587.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 146,
"cds_start": 200,
"cds_end": null,
"cds_length": 443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419185.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ala95Val",
"transcript": "XM_005274578.3",
"protein_id": "XP_005274635.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 330,
"cds_start": 284,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274578.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ala95Val",
"transcript": "XM_011545564.4",
"protein_id": "XP_011543866.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 330,
"cds_start": 284,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545564.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ala95Val",
"transcript": "XM_047442348.1",
"protein_id": "XP_047298304.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 330,
"cds_start": 284,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442348.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "XM_006724508.5",
"protein_id": "XP_006724571.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 329,
"cds_start": 281,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724508.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "XM_017029723.3",
"protein_id": "XP_016885212.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 302,
"cds_start": 200,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029723.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"transcript": "XM_005274579.3",
"protein_id": "XP_005274636.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 301,
"cds_start": 197,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274579.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"transcript": "XM_006724509.5",
"protein_id": "XP_006724572.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 301,
"cds_start": 197,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"transcript": "NM_001037535.3",
"protein_id": "NP_001032624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037535.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"transcript": "NM_001037536.3",
"protein_id": "NP_001032625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037536.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"transcript": "XM_047442349.1",
"protein_id": "XP_047298305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"transcript": "XM_047442350.1",
"protein_id": "XP_047298306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"hgvs_c": "n.378C>T",
"hgvs_p": null,
"transcript": "ENST00000427362.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000427362.2"
}
],
"gene_symbol": "SCML1",
"gene_hgnc_id": 10580,
"dbsnp": "rs142861368",
"frequency_reference_population": 0.001207262,
"hom_count_reference_population": 400,
"allele_count_reference_population": 1410,
"gnomad_exomes_af": 0.00110819,
"gnomad_genomes_af": 0.00213986,
"gnomad_exomes_ac": 1170,
"gnomad_genomes_ac": 240,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005057543516159058,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.1344,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.392,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001037540.3",
"gene_symbol": "SCML1",
"hgnc_id": 10580,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}