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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: 1-235494682-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235494682&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235494682,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_152490.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "NM_152490.5",
"protein_id": "NP_689703.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 500,
"cds_start": 259,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366600.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152490.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000366600.8",
"protein_id": "ENSP00000355559.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 500,
"cds_start": 259,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152490.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366600.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "ENST00000313984.3",
"protein_id": "ENSP00000315678.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 326,
"cds_start": 382,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313984.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "ENST00000954792.1",
"protein_id": "ENSP00000624851.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 540,
"cds_start": 382,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954792.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "ENST00000676288.1",
"protein_id": "ENSP00000502392.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 502,
"cds_start": 382,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676288.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000920824.1",
"protein_id": "ENSP00000590883.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 499,
"cds_start": 259,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920824.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000920826.1",
"protein_id": "ENSP00000590885.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 499,
"cds_start": 259,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920826.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000954793.1",
"protein_id": "ENSP00000624852.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 498,
"cds_start": 259,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954793.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000920827.1",
"protein_id": "ENSP00000590886.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 463,
"cds_start": 259,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920827.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000883744.1",
"protein_id": "ENSP00000553803.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 461,
"cds_start": 259,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883744.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Cys",
"transcript": "ENST00000675555.1",
"protein_id": "ENSP00000501896.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 426,
"cds_start": 37,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675555.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "NM_001277155.3",
"protein_id": "NP_001264084.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 326,
"cds_start": 382,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277155.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "ENST00000920825.1",
"protein_id": "ENSP00000590884.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 286,
"cds_start": 382,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920825.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000920823.1",
"protein_id": "ENSP00000590882.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 245,
"cds_start": 259,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920823.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "ENST00000920822.1",
"protein_id": "ENSP00000590881.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 244,
"cds_start": 382,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920822.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000883743.1",
"protein_id": "ENSP00000553802.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 203,
"cds_start": 259,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883743.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "XM_006711749.4",
"protein_id": "XP_006711812.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 586,
"cds_start": 259,
"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_006711749.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "XM_017000394.2",
"protein_id": "XP_016855883.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 541,
"cds_start": 382,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000394.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "XM_047447002.1",
"protein_id": "XP_047302958.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 332,
"cds_start": 382,
"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": "XM_047447002.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "XM_047447003.1",
"protein_id": "XP_047302959.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 314,
"cds_start": 382,
"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": "XM_047447003.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "XM_047447004.1",
"protein_id": "XP_047302960.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 309,
"cds_start": 382,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447004.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
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"transcript": "XM_047447005.1",
"protein_id": "XP_047302961.1",
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"aa_start": 87,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447005.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "B3GALNT2",
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"hgvs_c": "n.432C>T",
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"transcript": "ENST00000494378.1",
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"transcript_support_level": 2,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494378.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "B3GALNT2",
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"hgvs_c": "n.259C>T",
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"transcript": "ENST00000612859.4",
"protein_id": "ENSP00000481548.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000612859.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "B3GALNT2",
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"hgvs_c": "n.382C>T",
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"transcript": "ENST00000675193.1",
"protein_id": "ENSP00000502069.1",
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"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": "ENST00000675193.1"
}
],
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"dbsnp": "rs747653180",
"frequency_reference_population": 0.00001366424,
"hom_count_reference_population": 1,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000130317,
"gnomad_genomes_af": 0.0000197291,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8289775848388672,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9240000247955322,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.358,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.399,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.272,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.993435735742514,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152490.5",
"gene_symbol": "B3GALNT2",
"hgnc_id": 28596,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys"
}
],
"clinvar_disease": " 11, type a,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}