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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: 1-77874855-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77874855&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77874855,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270384.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "NM_001416120.1",
"protein_id": "NP_001403049.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370791.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416120.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "ENST00000370791.9",
"protein_id": "ENSP00000359827.4",
"transcript_support_level": 1,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001416120.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370791.9"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "ENST00000443751.4",
"protein_id": "ENSP00000393675.4",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443751.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1693C>A",
"hgvs_p": "p.Leu565Ile",
"transcript": "NM_001270384.2",
"protein_id": "NP_001257313.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 633,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270384.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1690C>A",
"hgvs_p": "p.Leu564Ile",
"transcript": "NM_198549.4",
"protein_id": "NP_940951.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 632,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198549.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1690C>A",
"hgvs_p": "p.Leu564Ile",
"transcript": "ENST00000710932.1",
"protein_id": "ENSP00000518551.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 632,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710932.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1618C>A",
"hgvs_p": "p.Leu540Ile",
"transcript": "ENST00000966507.1",
"protein_id": "ENSP00000636566.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 608,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966507.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1606C>A",
"hgvs_p": "p.Leu536Ile",
"transcript": "NM_001394566.1",
"protein_id": "NP_001381495.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 604,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394566.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "NM_001394567.1",
"protein_id": "NP_001381496.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394567.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "NM_001394568.1",
"protein_id": "NP_001381497.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394568.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "NM_001394569.1",
"protein_id": "NP_001381498.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394569.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "NM_001394570.1",
"protein_id": "NP_001381499.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394570.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "ENST00000646892.1",
"protein_id": "ENSP00000495239.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646892.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "ENST00000881011.1",
"protein_id": "ENSP00000551070.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881011.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "ENST00000881015.1",
"protein_id": "ENSP00000551074.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881015.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Leu533Ile",
"transcript": "ENST00000966498.1",
"protein_id": "ENSP00000636557.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 601,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966498.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "NM_001363583.1",
"protein_id": "NP_001350512.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363583.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "NM_001363584.1",
"protein_id": "NP_001350513.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363584.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "NM_001363586.1",
"protein_id": "NP_001350515.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363586.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "NM_001394571.1",
"protein_id": "NP_001381500.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394571.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "ENST00000645526.1",
"protein_id": "ENSP00000494964.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645526.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Leu532Ile",
"transcript": "ENST00000881008.1",
"protein_id": "ENSP00000551067.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
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"hgvs_c": "c.1216C>A",
"hgvs_p": "p.Leu406Ile",
"transcript": "ENST00000966502.1",
"protein_id": "ENSP00000636561.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 474,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.1468-3901C>A",
"hgvs_p": null,
"transcript": "ENST00000643390.1",
"protein_id": "ENSP00000496647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "n.1594C>A",
"hgvs_p": null,
"transcript": "ENST00000643143.2",
"protein_id": "ENSP00000495281.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643143.2"
}
],
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"dbsnp": "rs151188678",
"frequency_reference_population": 0.0008807075,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1420,
"gnomad_exomes_af": 0.000933376,
"gnomad_genomes_af": 0.000374877,
"gnomad_exomes_ac": 1363,
"gnomad_genomes_ac": 57,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.045650213956832886,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.385,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001270384.2",
"gene_symbol": "MIGA1",
"hgnc_id": 24741,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1693C>A",
"hgvs_p": "p.Leu565Ile"
}
],
"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
}