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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: 11-130905959-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130905959&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 130905959,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014758.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Asp813Asn",
"transcript": "NM_014758.3",
"protein_id": "NP_055573.3",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 992,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265909.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014758.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Asp813Asn",
"transcript": "ENST00000265909.9",
"protein_id": "ENSP00000265909.4",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 992,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014758.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265909.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Asp796Asn",
"transcript": "ENST00000533214.1",
"protein_id": "ENSP00000435390.1",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 803,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533214.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Asp53Asn",
"transcript": "ENST00000534726.5",
"protein_id": "ENSP00000433699.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 232,
"cds_start": 157,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534726.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2317G>A",
"hgvs_p": "p.Asp773Asn",
"transcript": "NM_001347918.2",
"protein_id": "NP_001334847.2",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 952,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347918.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Asp813Asn",
"transcript": "NM_001347919.2",
"protein_id": "NP_001334848.2",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 907,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347919.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Asp813Asn",
"transcript": "NM_001347920.2",
"protein_id": "NP_001334849.2",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 880,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347920.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Asp796Asn",
"transcript": "NM_001347921.2",
"protein_id": "NP_001334850.2",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 803,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347921.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"transcript": "NM_001347922.2",
"protein_id": "NP_001334851.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 435,
"cds_start": 766,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347922.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Asp238Asn",
"transcript": "NM_001347923.2",
"protein_id": "NP_001334852.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 417,
"cds_start": 712,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347923.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "NM_001301089.2",
"protein_id": "NP_001288018.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 577,
"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": "NM_001301089.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "ENST00000528555.5",
"protein_id": "ENSP00000435122.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 577,
"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": "ENST00000528555.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "ENST00000530356.5",
"protein_id": "ENSP00000432307.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 577,
"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": "ENST00000530356.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Asp153Asn",
"transcript": "NM_001347924.2",
"protein_id": "NP_001334853.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 332,
"cds_start": 457,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347924.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Asp135Asn",
"transcript": "NM_001347925.2",
"protein_id": "NP_001334854.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 314,
"cds_start": 403,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347925.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Asp193Asn",
"transcript": "NM_001347926.2",
"protein_id": "NP_001334855.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 287,
"cds_start": 577,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347926.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Asp53Asn",
"transcript": "NM_001347927.2",
"protein_id": "NP_001334856.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 232,
"cds_start": 157,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347927.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Asp813Asn",
"transcript": "XM_047426940.1",
"protein_id": "XP_047282896.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 874,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426940.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.2317G>A",
"hgvs_p": "p.Asp773Asn",
"transcript": "XM_047426941.1",
"protein_id": "XP_047282897.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 840,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426941.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Asp519Asn",
"transcript": "XM_047426943.1",
"protein_id": "XP_047282899.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 586,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "n.625G>A",
"hgvs_p": null,
"transcript": "ENST00000524460.1",
"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": "ENST00000524460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"transcript": "ENST00000526579.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000526579.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "n.176G>A",
"hgvs_p": null,
"transcript": "ENST00000527451.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000527451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "n.797G>A",
"hgvs_p": null,
"transcript": "ENST00000533318.5",
"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": "pseudogene",
"feature": "ENST00000533318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"hgvs_c": "n.3062G>A",
"hgvs_p": null,
"transcript": "NR_144939.2",
"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_144939.2"
}
],
"gene_symbol": "SNX19",
"gene_hgnc_id": 21532,
"dbsnp": "rs771453804",
"frequency_reference_population": 0.000021064345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000225737,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10540693998336792,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.602,
"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": 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_014758.3",
"gene_symbol": "SNX19",
"hgnc_id": 21532,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Asp813Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}