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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: 7-128680067-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128680067&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128680067,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001012454.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.625G>C",
"hgvs_p": "p.Glu209Gln",
"transcript": "NM_001128926.4",
"protein_id": "NP_001122398.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 300,
"cds_start": 625,
"cds_end": null,
"cds_length": 903,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": "ENST00000682356.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128926.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.625G>C",
"hgvs_p": "p.Glu209Gln",
"transcript": "ENST00000682356.1",
"protein_id": "ENSP00000506740.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 300,
"cds_start": 625,
"cds_end": null,
"cds_length": 903,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": "NM_001128926.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682356.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000641605.1",
"protein_id": "ENSP00000493102.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 309,
"cds_start": 652,
"cds_end": null,
"cds_length": 930,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641605.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Ala134Ala",
"transcript": "ENST00000477515.3",
"protein_id": "ENSP00000419649.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 169,
"cds_start": 402,
"cds_end": null,
"cds_length": 510,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477515.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "NM_001012454.6",
"protein_id": "NP_001012457.3",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 309,
"cds_start": 652,
"cds_end": null,
"cds_length": 930,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012454.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Glu213Gln",
"transcript": "ENST00000684498.1",
"protein_id": "ENSP00000507417.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 304,
"cds_start": 637,
"cds_end": null,
"cds_length": 915,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684498.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.367G>C",
"hgvs_p": "p.Glu123Gln",
"transcript": "NM_001290254.2",
"protein_id": "NP_001277183.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 214,
"cds_start": 367,
"cds_end": null,
"cds_length": 645,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 5813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290254.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "c.367G>C",
"hgvs_p": "p.Glu123Gln",
"transcript": "NM_001290255.2",
"protein_id": "NP_001277184.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 214,
"cds_start": 367,
"cds_end": null,
"cds_length": 645,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290255.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.625G>C",
"hgvs_p": null,
"transcript": "ENST00000641888.1",
"protein_id": "ENSP00000493352.1",
"transcript_support_level": null,
"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": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641888.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.625G>C",
"hgvs_p": null,
"transcript": "ENST00000641987.1",
"protein_id": "ENSP00000493021.1",
"transcript_support_level": null,
"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": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641987.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.*326G>C",
"hgvs_p": null,
"transcript": "ENST00000682361.1",
"protein_id": "ENSP00000507180.1",
"transcript_support_level": null,
"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": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682361.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.*610G>C",
"hgvs_p": null,
"transcript": "ENST00000683523.1",
"protein_id": "ENSP00000507391.1",
"transcript_support_level": null,
"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": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683523.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.489G>C",
"hgvs_p": null,
"transcript": "ENST00000684390.1",
"protein_id": "ENSP00000508360.1",
"transcript_support_level": null,
"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": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684390.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.*498G>C",
"hgvs_p": null,
"transcript": "ENST00000684742.1",
"protein_id": "ENSP00000508054.1",
"transcript_support_level": null,
"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": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684742.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060021.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060021.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060022.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060022.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060023.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060023.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060024.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060024.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060025.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060025.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060026.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060026.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.758G>C",
"hgvs_p": null,
"transcript": "XR_007060027.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060027.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN1A",
"gene_hgnc_id": 27998,
"hgvs_c": "n.743G>C",
"hgvs_p": null,
"transcript": "XR_007060028.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060028.1"
},
{
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"aa_alt": 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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"gene_symbol": "GARIN1A",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683523.1"
},
{
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"strand": true,
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"3_prime_UTR_variant"
],
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"gene_symbol": "GARIN1A",
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"hgvs_c": "n.*498G>C",
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"transcript": "ENST00000684742.1",
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"cdna_length": 1125,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684742.1"
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],
"gene_symbol": "GARIN1A",
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"dbsnp": "rs757554559",
"frequency_reference_population": 0.000003501126,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000350113,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1538640260696411,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.1031,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.119,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001012454.6",
"gene_symbol": "GARIN1A",
"hgnc_id": 27998,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln"
}
],
"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
}