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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: 12-57488156-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57488156&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57488156,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004990.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "NM_004990.4",
"protein_id": "NP_004981.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 900,
"cds_start": 66,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262027.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004990.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000262027.10",
"protein_id": "ENSP00000262027.5",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 900,
"cds_start": 66,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004990.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262027.10"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.-204+456G>A",
"hgvs_p": null,
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393797.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000948582.1",
"protein_id": "ENSP00000618641.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 941,
"cds_start": 66,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948582.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000948584.1",
"protein_id": "ENSP00000618643.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 934,
"cds_start": 66,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948584.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000948583.1",
"protein_id": "ENSP00000618642.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 925,
"cds_start": 66,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948583.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000916094.1",
"protein_id": "ENSP00000586153.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 914,
"cds_start": 66,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916094.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000906525.1",
"protein_id": "ENSP00000576584.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 899,
"cds_start": 66,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906525.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000906528.1",
"protein_id": "ENSP00000576587.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 899,
"cds_start": 66,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906528.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000906530.1",
"protein_id": "ENSP00000576589.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 899,
"cds_start": 66,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906530.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000916098.1",
"protein_id": "ENSP00000586157.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 898,
"cds_start": 66,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916098.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000916097.1",
"protein_id": "ENSP00000586156.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 875,
"cds_start": 66,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916097.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000906526.1",
"protein_id": "ENSP00000576585.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 868,
"cds_start": 66,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906526.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000916095.1",
"protein_id": "ENSP00000586154.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 868,
"cds_start": 66,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916095.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000916099.1",
"protein_id": "ENSP00000586158.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 865,
"cds_start": 66,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916099.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000906529.1",
"protein_id": "ENSP00000576588.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 855,
"cds_start": 66,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906529.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000916096.1",
"protein_id": "ENSP00000586155.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 823,
"cds_start": 66,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916096.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000906527.1",
"protein_id": "ENSP00000576586.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 818,
"cds_start": 66,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906527.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000628866.2",
"protein_id": "ENSP00000486738.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 95,
"cds_start": 66,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628866.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000630571.2",
"protein_id": "ENSP00000485951.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 71,
"cds_start": 66,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630571.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000630803.1",
"protein_id": "ENSP00000486356.1",
"transcript_support_level": 3,
"aa_start": 22,
"aa_end": null,
"aa_length": 60,
"cds_start": 66,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630803.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "XM_047428852.1",
"protein_id": "XP_047284808.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 546,
"cds_start": 66,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428852.1"
},
{
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"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.89C>T",
"hgvs_p": null,
"transcript": "ENST00000553162.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000553162.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.79+54C>T",
"hgvs_p": null,
"transcript": "ENST00000548674.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000548674.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.-56C>T",
"hgvs_p": null,
"transcript": "ENST00000548146.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000548146.1"
}
],
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"dbsnp": "rs200471304",
"frequency_reference_population": 0.000022923985,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000232584,
"gnomad_genomes_af": 0.0000197119,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.408,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_004990.4",
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala"
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001319850.2",
"gene_symbol": "ARHGAP9",
"hgnc_id": 14130,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-204+456G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2U,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2U;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}