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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: 17-64002860-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64002860&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64002860,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000873.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "NM_001099789.2",
"protein_id": "NP_001093259.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579788.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099789.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000579788.6",
"protein_id": "ENSP00000464665.1",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099789.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579788.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000449662.6",
"protein_id": "ENSP00000392634.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449662.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "c.*1099C>T",
"hgvs_p": null,
"transcript": "NM_001164257.2",
"protein_id": "NP_001157729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412177.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "c.*1099C>T",
"hgvs_p": null,
"transcript": "ENST00000412177.6",
"protein_id": "ENSP00000400986.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164257.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412177.6"
},
{
"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": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "n.1634C>T",
"hgvs_p": null,
"transcript": "ENST00000225760.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000225760.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR29",
"gene_hgnc_id": 25673,
"hgvs_c": "n.1864C>T",
"hgvs_p": null,
"transcript": "ENST00000582530.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582530.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Val283Met",
"transcript": "ENST00000852957.1",
"protein_id": "ENSP00000523016.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 319,
"cds_start": 847,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852957.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Val283Met",
"transcript": "ENST00000965113.1",
"protein_id": "ENSP00000635172.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 319,
"cds_start": 847,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965113.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Val283Met",
"transcript": "ENST00000965117.1",
"protein_id": "ENSP00000635176.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 319,
"cds_start": 847,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965117.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "NM_000873.4",
"protein_id": "NP_000864.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000873.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "NM_001099786.2",
"protein_id": "NP_001093256.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099786.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "NM_001099787.2",
"protein_id": "NP_001093257.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099787.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "NM_001099788.2",
"protein_id": "NP_001093258.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099788.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000412356.5",
"protein_id": "ENSP00000415283.1",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412356.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000418105.5",
"protein_id": "ENSP00000388666.1",
"transcript_support_level": 3,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418105.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000579687.5",
"protein_id": "ENSP00000462579.1",
"transcript_support_level": 3,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579687.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000852958.1",
"protein_id": "ENSP00000523017.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852958.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000965114.1",
"protein_id": "ENSP00000635173.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965114.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000965115.1",
"protein_id": "ENSP00000635174.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965115.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "ENST00000965116.1",
"protein_id": "ENSP00000635175.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 715,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965116.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ICAM2",
"gene_hgnc_id": 5345,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000578892.5",
"protein_id": "ENSP00000464372.1",
"transcript_support_level": 3,
"aa_start": 215,
"aa_end": null,
"aa_length": 251,
"cds_start": 643,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578892.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
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"mane_select": null,
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},
{
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],
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},
{
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},
{
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{
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},
{
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"transcript": "XM_017025315.2",
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{
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"transcript": "XM_011525469.2",
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{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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{
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],
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"transcript": "ENST00000583684.5",
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"biotype": "nonsense_mediated_decay",
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{
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"3_prime_UTR_variant"
],
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],
"gene_symbol": "ICAM2",
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"dbsnp": "rs368636050",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
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"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27411675453186035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.2939,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.142,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_000873.4",
"gene_symbol": "ICAM2",
"hgnc_id": 5345,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met"
},
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001191029.2",
"gene_symbol": "PRR29",
"hgnc_id": 25673,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*885C>T",
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}
],
"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
}