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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: 11-2302174-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2302174&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2302174,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139022.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe",
"transcript": "NM_139022.3",
"protein_id": "NP_620591.3",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 320,
"cds_start": 25,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000182290.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139022.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe",
"transcript": "ENST00000182290.9",
"protein_id": "ENSP00000182290.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 320,
"cds_start": 25,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139022.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000182290.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "n.25G>T",
"hgvs_p": null,
"transcript": "ENST00000446063.6",
"protein_id": "ENSP00000395018.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000446063.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "n.28G>T",
"hgvs_p": null,
"transcript": "ENST00000483227.5",
"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": "pseudogene",
"feature": "ENST00000483227.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe",
"transcript": "ENST00000961152.1",
"protein_id": "ENSP00000631211.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 25,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961152.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe",
"transcript": "ENST00000855795.1",
"protein_id": "ENSP00000525854.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 292,
"cds_start": 25,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855795.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe",
"transcript": "ENST00000855796.1",
"protein_id": "ENSP00000525855.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 267,
"cds_start": 25,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855796.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe",
"transcript": "ENST00000381121.7",
"protein_id": "ENSP00000370513.3",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 253,
"cds_start": 25,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381121.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_005252719.5",
"protein_id": "XP_005252776.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 378,
"cds_start": 130,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252719.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_011519815.4",
"protein_id": "XP_011518117.4",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 353,
"cds_start": 130,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519815.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_011519818.4",
"protein_id": "XP_011518120.4",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 330,
"cds_start": 130,
"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_011519818.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_011519822.2",
"protein_id": "XP_011518124.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 288,
"cds_start": 130,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519822.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_005252720.5",
"protein_id": "XP_005252777.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 283,
"cds_start": 130,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252720.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_047426212.1",
"protein_id": "XP_047282168.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 212,
"cds_start": 130,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426212.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "XM_047426215.1",
"protein_id": "XP_047282171.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 189,
"cds_start": 130,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000612299.4",
"protein_id": "ENSP00000482901.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612299.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.-73G>T",
"hgvs_p": null,
"transcript": "XM_011519819.2",
"protein_id": "XP_011518121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519819.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.-303G>T",
"hgvs_p": null,
"transcript": "XM_047426209.1",
"protein_id": "XP_047282165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.-108-258C>A",
"hgvs_p": null,
"transcript": "ENST00000856028.1",
"protein_id": "ENSP00000526087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.-59-307C>A",
"hgvs_p": null,
"transcript": "ENST00000856030.1",
"protein_id": "ENSP00000526089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.-108-258C>A",
"hgvs_p": null,
"transcript": "ENST00000856031.1",
"protein_id": "ENSP00000526090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.-202-164C>A",
"hgvs_p": null,
"transcript": "ENST00000961288.1",
"protein_id": "ENSP00000631347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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},
{
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"feature": "ENST00000461200.5"
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{
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"biotype": "pseudogene",
"feature": "ENST00000479508.5"
},
{
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{
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{
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{
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"strand": false,
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],
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"gene_symbol": "C11orf21",
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{
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],
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},
{
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],
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "C11orf21",
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"transcript": "ENST00000856032.1",
"protein_id": "ENSP00000526091.1",
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"biotype": "protein_coding",
"feature": "ENST00000856032.1"
}
],
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"dbsnp": "rs778131898",
"frequency_reference_population": 0.000001577195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000015772,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06587383151054382,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.41999998688697815,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.1577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.538,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.42,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139022.3",
"gene_symbol": "TSPAN32",
"hgnc_id": 13410,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Val9Phe"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000856028.1",
"gene_symbol": "C11orf21",
"hgnc_id": 13231,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-108-258C>A",
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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
}