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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: 8-39136667-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=39136667&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 39136667,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145004.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "NM_145004.7",
"protein_id": "NP_659441.4",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 787,
"cds_start": 149,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379907.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145004.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000379907.9",
"protein_id": "ENSP00000369238.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 787,
"cds_start": 149,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145004.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379907.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000519315.5",
"protein_id": "ENSP00000429422.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 629,
"cds_start": 149,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519315.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.-74C>G",
"hgvs_p": null,
"transcript": "ENST00000521741.5",
"protein_id": "ENSP00000431050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521741.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000864644.1",
"protein_id": "ENSP00000534703.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 774,
"cds_start": 149,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864644.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000864646.1",
"protein_id": "ENSP00000534705.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 735,
"cds_start": 149,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864646.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000864645.1",
"protein_id": "ENSP00000534704.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 712,
"cds_start": 149,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864645.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ser57Cys",
"transcript": "NM_001313994.1",
"protein_id": "NP_001300923.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 688,
"cds_start": 170,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313994.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Ser57Cys",
"transcript": "ENST00000437682.6",
"protein_id": "ENSP00000405978.2",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 688,
"cds_start": 170,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437682.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000953392.1",
"protein_id": "ENSP00000623451.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 675,
"cds_start": 149,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953392.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000953391.1",
"protein_id": "ENSP00000623450.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 668,
"cds_start": 149,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953391.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000522506.5",
"protein_id": "ENSP00000429066.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 183,
"cds_start": 149,
"cds_end": null,
"cds_length": 554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522506.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.242C>G",
"hgvs_p": "p.Ser81Cys",
"transcript": "ENST00000523400.5",
"protein_id": "ENSP00000427735.1",
"transcript_support_level": 4,
"aa_start": 81,
"aa_end": null,
"aa_length": 171,
"cds_start": 242,
"cds_end": null,
"cds_length": 518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523400.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "ENST00000399831.7",
"protein_id": "ENSP00000382727.3",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 154,
"cds_start": 149,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399831.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_006716298.4",
"protein_id": "XP_006716361.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 774,
"cds_start": 149,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716298.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_011544433.3",
"protein_id": "XP_011542735.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 774,
"cds_start": 149,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544433.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_017013183.3",
"protein_id": "XP_016868672.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 764,
"cds_start": 149,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013183.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_017013184.3",
"protein_id": "XP_016868673.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 748,
"cds_start": 149,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013184.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Ser5Cys",
"transcript": "XM_017013185.3",
"protein_id": "XP_016868674.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 742,
"cds_start": 14,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013185.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_011544434.3",
"protein_id": "XP_011542736.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 714,
"cds_start": 149,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544434.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_006716299.3",
"protein_id": "XP_006716362.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 681,
"cds_start": 149,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716299.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_017013186.3",
"protein_id": "XP_016868675.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 657,
"cds_start": 149,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013186.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys",
"transcript": "XM_047421494.1",
"protein_id": "XP_047277450.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 645,
"cds_start": 149,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421494.1"
},
{
"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": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "c.-74C>G",
"hgvs_p": null,
"transcript": "ENST00000521741.5",
"protein_id": "ENSP00000431050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521741.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"hgvs_c": "n.177C>G",
"hgvs_p": null,
"transcript": "ENST00000518259.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000518259.1"
}
],
"gene_symbol": "ADAM32",
"gene_hgnc_id": 15479,
"dbsnp": "rs201616533",
"frequency_reference_population": 0.00011959592,
"hom_count_reference_population": 0,
"allele_count_reference_population": 184,
"gnomad_exomes_af": 0.000121891,
"gnomad_genomes_af": 0.0000986621,
"gnomad_exomes_ac": 169,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04227128624916077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.2419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.23,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145004.7",
"gene_symbol": "ADAM32",
"hgnc_id": 15479,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Ser50Cys"
}
],
"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
}