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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: 13-110622234-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110622234&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110622234,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018210.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "NM_001242882.2",
"protein_id": "NP_001229811.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 329,
"cds_start": 65,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680254.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242882.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000680254.1",
"protein_id": "ENSP00000505619.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 329,
"cds_start": 65,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242882.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680254.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ser40Leu",
"transcript": "NM_018210.4",
"protein_id": "NP_060680.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 390,
"cds_start": 119,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018210.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ser40Leu",
"transcript": "ENST00000309957.3",
"protein_id": "ENSP00000311984.2",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 390,
"cds_start": 119,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309957.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000679389.1",
"protein_id": "ENSP00000505318.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 372,
"cds_start": 65,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679389.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000957157.1",
"protein_id": "ENSP00000627216.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 371,
"cds_start": 65,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957157.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000957154.1",
"protein_id": "ENSP00000627213.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 364,
"cds_start": 65,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957154.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Ser48Leu",
"transcript": "ENST00000680312.1",
"protein_id": "ENSP00000505802.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 355,
"cds_start": 143,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680312.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ser40Leu",
"transcript": "NM_001242881.2",
"protein_id": "NP_001229810.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 347,
"cds_start": 119,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242881.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ser40Leu",
"transcript": "ENST00000680505.1",
"protein_id": "ENSP00000504986.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 347,
"cds_start": 119,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680505.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000957156.1",
"protein_id": "ENSP00000627215.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 342,
"cds_start": 65,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957156.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000957152.1",
"protein_id": "ENSP00000627211.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 328,
"cds_start": 65,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957152.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000908008.1",
"protein_id": "ENSP00000578067.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 327,
"cds_start": 65,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908008.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000957153.1",
"protein_id": "ENSP00000627212.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 312,
"cds_start": 65,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957153.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000957155.1",
"protein_id": "ENSP00000627214.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 300,
"cds_start": 65,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957155.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000908005.1",
"protein_id": "ENSP00000578064.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 284,
"cds_start": 65,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908005.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000908006.1",
"protein_id": "ENSP00000578065.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 263,
"cds_start": 65,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908006.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Ser22Leu",
"transcript": "ENST00000932772.1",
"protein_id": "ENSP00000602831.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 211,
"cds_start": 65,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932772.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.47-2000C>T",
"hgvs_p": null,
"transcript": "ENST00000908007.1",
"protein_id": "ENSP00000578066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908007.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.57-5205C>T",
"hgvs_p": null,
"transcript": "NM_001242883.2",
"protein_id": "NP_001229812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242883.2"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "c.57-5205C>T",
"hgvs_p": null,
"transcript": "ENST00000424185.7",
"protein_id": "ENSP00000413191.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424185.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "n.76C>T",
"hgvs_p": null,
"transcript": "ENST00000470164.2",
"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": "pseudogene",
"feature": "ENST00000470164.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "n.65C>T",
"hgvs_p": null,
"transcript": "ENST00000679968.1",
"protein_id": "ENSP00000506246.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "n.207C>T",
"hgvs_p": null,
"transcript": "NR_040103.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"hgvs_c": "n.207C>T",
"hgvs_p": null,
"transcript": "NR_040104.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040104.1"
}
],
"gene_symbol": "NAXD",
"gene_hgnc_id": 25576,
"dbsnp": "rs373011260",
"frequency_reference_population": 0.000013020898,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000109548,
"gnomad_genomes_af": 0.0000328416,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11079838871955872,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.113,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.381,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018210.4",
"gene_symbol": "NAXD",
"hgnc_id": 25576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ser40Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}