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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: 1-99993668-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99993668&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 99993668,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001271685.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "NM_012243.3",
"protein_id": "NP_036375.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533028.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012243.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000533028.8",
"protein_id": "ENSP00000433849.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012243.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533028.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000639037.1",
"protein_id": "ENSP00000492745.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 713,
"cds_start": 114,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639037.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000638336.1",
"protein_id": "ENSP00000491145.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 220,
"cds_start": 114,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638336.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000638792.1",
"protein_id": "ENSP00000491854.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 689,
"cds_start": 114,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638792.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.240A>G",
"hgvs_p": "p.Leu80Leu",
"transcript": "NM_001271685.2",
"protein_id": "NP_001258614.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 367,
"cds_start": 240,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271685.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.240A>G",
"hgvs_p": "p.Leu80Leu",
"transcript": "ENST00000370153.6",
"protein_id": "ENSP00000359172.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 367,
"cds_start": 240,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370153.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000640600.1",
"protein_id": "ENSP00000491789.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 328,
"cds_start": 114,
"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": "ENST00000640600.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "NM_001438725.1",
"protein_id": "NP_001425654.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438725.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000427993.7",
"protein_id": "ENSP00000414947.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427993.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000465289.6",
"protein_id": "ENSP00000418527.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465289.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000852947.1",
"protein_id": "ENSP00000523006.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852947.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000852948.1",
"protein_id": "ENSP00000523007.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852948.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000852950.1",
"protein_id": "ENSP00000523009.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852950.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000852953.1",
"protein_id": "ENSP00000523012.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852953.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000952985.1",
"protein_id": "ENSP00000623044.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952985.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000952986.1",
"protein_id": "ENSP00000623045.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 325,
"cds_start": 114,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952986.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000852951.1",
"protein_id": "ENSP00000523010.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 324,
"cds_start": 114,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852951.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000638371.1",
"protein_id": "ENSP00000491146.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 318,
"cds_start": 114,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638371.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000638338.1",
"protein_id": "ENSP00000491533.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 315,
"cds_start": 114,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638338.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000639994.1",
"protein_id": "ENSP00000492135.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 296,
"cds_start": 114,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639994.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000852952.1",
"protein_id": "ENSP00000523011.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 293,
"cds_start": 114,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
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"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"exon_count": 6,
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"transcript": "XR_007066249.1",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066249.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "LOC124904230",
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"hgvs_c": "n.279+44062T>C",
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"transcript": "XR_007066250.1",
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066250.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "LOC124904230",
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"hgvs_c": "n.279+44062T>C",
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"transcript": "XR_007066251.1",
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "XR_007066251.1"
}
],
"gene_symbol": "SLC35A3",
"gene_hgnc_id": 11023,
"dbsnp": "rs757521726",
"frequency_reference_population": 0.000022305661,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000225754,
"gnomad_genomes_af": 0.0000197145,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.089,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001271685.2",
"gene_symbol": "SLC35A3",
"hgnc_id": 11023,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.240A>G",
"hgvs_p": "p.Leu80Leu"
},
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000639037.1",
"gene_symbol": "ENSG00000283761",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.114A>G",
"hgvs_p": "p.Leu38Leu"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000840838.1",
"gene_symbol": "ENSG00000288826",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.278+44062T>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007066243.1",
"gene_symbol": "LOC124904230",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279+44062T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Autism spectrum disorder - epilepsy - arthrogryposis syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Autism spectrum disorder - epilepsy - arthrogryposis syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}