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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: 2-219500188-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219500188&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219500188,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438893.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "NM_013335.4",
"protein_id": "NP_037467.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 420,
"cds_start": 108,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313597.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013335.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000313597.10",
"protein_id": "ENSP00000315925.6",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 420,
"cds_start": 108,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013335.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313597.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000358215.8",
"protein_id": "ENSP00000350949.3",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 420,
"cds_start": 108,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358215.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000435316.6",
"protein_id": "ENSP00000411060.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 248,
"cds_start": 3,
"cds_end": null,
"cds_length": 748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435316.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000684669.1",
"protein_id": "ENSP00000507011.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 127,
"cds_start": 3,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684669.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000950500.1",
"protein_id": "ENSP00000620559.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 478,
"cds_start": 108,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950500.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000950502.1",
"protein_id": "ENSP00000620561.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 478,
"cds_start": 108,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950502.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "NM_001438893.1",
"protein_id": "NP_001425822.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438893.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "NM_001438894.1",
"protein_id": "NP_001425823.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438894.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "NM_001438895.1",
"protein_id": "NP_001425824.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438895.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000373917.7",
"protein_id": "ENSP00000363027.3",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373917.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000895886.1",
"protein_id": "ENSP00000565945.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895886.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000895889.1",
"protein_id": "ENSP00000565948.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895889.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000895890.1",
"protein_id": "ENSP00000565949.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895890.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000895892.1",
"protein_id": "ENSP00000565951.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895892.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000930370.1",
"protein_id": "ENSP00000600429.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930370.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000930372.1",
"protein_id": "ENSP00000600431.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 473,
"cds_start": 108,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930372.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000930367.1",
"protein_id": "ENSP00000600426.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 428,
"cds_start": 108,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930367.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000950499.1",
"protein_id": "ENSP00000620558.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 428,
"cds_start": 108,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950499.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000930366.1",
"protein_id": "ENSP00000600425.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 425,
"cds_start": 108,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930366.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000930369.1",
"protein_id": "ENSP00000600428.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 425,
"cds_start": 108,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930369.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000950497.1",
"protein_id": "ENSP00000620556.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 425,
"cds_start": 108,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950497.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
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{
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],
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"biotype": "pseudogene",
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{
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"strand": true,
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],
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{
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"biotype": "retained_intron",
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{
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],
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"gene_symbol": "ASIC4-AS1",
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"transcript": "XR_923921.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_923921.2"
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],
"gene_symbol": "GMPPA",
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"dbsnp": "rs745438072",
"frequency_reference_population": 0.00016749804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 265,
"gnomad_exomes_af": 0.000176226,
"gnomad_genomes_af": 0.0000854577,
"gnomad_exomes_ac": 252,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41042810678482056,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.461,
"phylop100way_prediction": "Uncertain_significance",
"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": -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_001438893.1",
"gene_symbol": "GMPPA",
"hgnc_id": 22923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile"
},
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429882.1",
"gene_symbol": "ASIC4-AS1",
"hgnc_id": 40960,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.182+16508C>G",
"hgvs_p": null
}
],
"clinvar_disease": " achalasia, and intellectual disability syndrome,Alacrima,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Alacrima, achalasia, and intellectual disability syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}