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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: 2-188541286-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=188541286&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 188541286,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375948.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "NM_016315.4",
"protein_id": "NP_057399.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 304,
"cds_start": 367,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409830.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016315.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000409830.6",
"protein_id": "ENSP00000386732.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 304,
"cds_start": 367,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016315.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409830.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000359135.7",
"protein_id": "ENSP00000352047.3",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 304,
"cds_start": 367,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359135.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000410051.5",
"protein_id": "ENSP00000387013.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 167,
"cds_start": 367,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410051.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963749.1",
"protein_id": "ENSP00000633808.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 387,
"cds_start": 367,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963749.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "NM_001375948.1",
"protein_id": "NP_001362877.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375948.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "NM_001375949.1",
"protein_id": "NP_001362878.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375949.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000433052.2",
"protein_id": "ENSP00000391712.2",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433052.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000908908.1",
"protein_id": "ENSP00000578967.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908908.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000908914.1",
"protein_id": "ENSP00000578973.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908914.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000908921.1",
"protein_id": "ENSP00000578980.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908921.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000919994.1",
"protein_id": "ENSP00000590053.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919994.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000919995.1",
"protein_id": "ENSP00000590054.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919995.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000920002.1",
"protein_id": "ENSP00000590061.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920002.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000920020.1",
"protein_id": "ENSP00000590079.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920020.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963747.1",
"protein_id": "ENSP00000633806.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963747.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963750.1",
"protein_id": "ENSP00000633809.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963750.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963753.1",
"protein_id": "ENSP00000633812.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963753.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963756.1",
"protein_id": "ENSP00000633815.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963756.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963758.1",
"protein_id": "ENSP00000633817.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963758.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "ENST00000963763.1",
"protein_id": "ENSP00000633822.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 379,
"cds_start": 367,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963763.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr",
"transcript": "NM_001375940.1",
"protein_id": "NP_001362869.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 374,
"cds_start": 367,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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{
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{
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"strand": true,
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"biotype": "pseudogene",
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{
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"feature": "ENST00000495745.5"
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{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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{
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],
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"biotype": "pseudogene",
"feature": "NR_164745.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "GULP1",
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"hgvs_c": "n.254+12091C>T",
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"transcript": "ENST00000467422.5",
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"biotype": "pseudogene",
"feature": "ENST00000467422.5"
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],
"gene_symbol": "GULP1",
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"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": 0.8063920140266418,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.6,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9193,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.82,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375948.1",
"gene_symbol": "GULP1",
"hgnc_id": 18649,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.367C>T",
"hgvs_p": "p.His123Tyr"
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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
}