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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: 1-46192181-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46192181&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46192181,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001243766.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_017739.4",
"protein_id": "NP_060209.4",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "ENST00000371984.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017739.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000371984.8",
"protein_id": "ENSP00000361052.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "NM_017739.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371984.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_001243766.2",
"protein_id": "NP_001230695.2",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 748,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243766.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000371992.1",
"protein_id": "ENSP00000361060.1",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 748,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371992.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_001410783.1",
"protein_id": "NP_001397712.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 718,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410783.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_001438686.1",
"protein_id": "NP_001425615.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 718,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438686.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_001438688.1",
"protein_id": "NP_001425617.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 718,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438688.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000692369.1",
"protein_id": "ENSP00000508453.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 718,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692369.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000908470.1",
"protein_id": "ENSP00000578529.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 690,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908470.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000687149.1",
"protein_id": "ENSP00000509745.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 673,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687149.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1486C>G",
"hgvs_p": "p.Arg496Gly",
"transcript": "ENST00000948737.1",
"protein_id": "ENSP00000618796.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 670,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948737.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1474C>G",
"hgvs_p": "p.Arg492Gly",
"transcript": "ENST00000908473.1",
"protein_id": "ENSP00000578532.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 666,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908473.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1474C>G",
"hgvs_p": "p.Arg492Gly",
"transcript": "ENST00000908481.1",
"protein_id": "ENSP00000578540.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 666,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908481.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1471C>G",
"hgvs_p": "p.Arg491Gly",
"transcript": "ENST00000908472.1",
"protein_id": "ENSP00000578531.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 665,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908472.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_001437653.1",
"protein_id": "NP_001424582.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437653.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "NM_001438689.1",
"protein_id": "NP_001425618.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438689.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000396420.8",
"protein_id": "ENSP00000379698.4",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396420.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000686737.1",
"protein_id": "ENSP00000508736.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686737.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000687683.1",
"protein_id": "ENSP00000508522.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687683.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000908469.1",
"protein_id": "ENSP00000578528.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908469.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000908471.1",
"protein_id": "ENSP00000578530.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908471.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000908475.1",
"protein_id": "ENSP00000578534.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 660,
"cds_start": 1456,
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"feature": "ENST00000689756.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
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"hgvs_c": "n.*396C>G",
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"transcript": "ENST00000691209.1",
"protein_id": "ENSP00000510112.1",
"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": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691209.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
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"hgvs_c": "n.*1308C>G",
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"transcript": "ENST00000692322.1",
"protein_id": "ENSP00000509017.1",
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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": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692322.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.*396C>G",
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"transcript": "ENST00000692635.1",
"protein_id": "ENSP00000508425.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692635.1"
}
],
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"dbsnp": "rs534543454",
"frequency_reference_population": 0.000019204845,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000184693,
"gnomad_genomes_af": 0.000026265,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.556939423084259,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.66,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1476,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.519,
"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": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM1"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001243766.2",
"gene_symbol": "POMGNT1",
"hgnc_id": 19139,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "XM_011540460.4",
"gene_symbol": "TSPAN1",
"hgnc_id": 20657,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.679-4021G>C",
"hgvs_p": null
}
],
"clinvar_disease": " type A3, type B3,Autosomal recessive limb-girdle muscular dystrophy type 2O,Inborn genetic diseases,Muscle eye brain disease,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),Retinitis pigmentosa 76,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "not specified|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Inborn genetic diseases|Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}