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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: 22-41583996-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41583996&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41583996,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002676.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "NM_002676.3",
"protein_id": "NP_002667.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 262,
"cds_start": 437,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216259.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002676.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "ENST00000216259.8",
"protein_id": "ENSP00000216259.7",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 262,
"cds_start": 437,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002676.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216259.8"
},
{
"aa_ref": "T",
"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": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.671C>A",
"hgvs_p": "p.Thr224Asn",
"transcript": "ENST00000949539.1",
"protein_id": "ENSP00000619598.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 340,
"cds_start": 671,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949539.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Thr189Asn",
"transcript": "ENST00000940470.1",
"protein_id": "ENSP00000610529.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 305,
"cds_start": 566,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940470.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Thr161Asn",
"transcript": "ENST00000949538.1",
"protein_id": "ENSP00000619597.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 277,
"cds_start": 482,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949538.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "ENST00000949537.1",
"protein_id": "ENSP00000619596.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949537.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Asn",
"transcript": "ENST00000896620.1",
"protein_id": "ENSP00000566679.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 269,
"cds_start": 458,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896620.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "ENST00000949536.1",
"protein_id": "ENSP00000619595.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 262,
"cds_start": 437,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949536.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "ENST00000940468.1",
"protein_id": "ENSP00000610527.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 261,
"cds_start": 437,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940468.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "ENST00000940469.1",
"protein_id": "ENSP00000610528.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 260,
"cds_start": 437,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940469.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Thr144Asn",
"transcript": "ENST00000940471.1",
"protein_id": "ENSP00000610530.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 260,
"cds_start": 431,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940471.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Thr143Asn",
"transcript": "ENST00000896615.1",
"protein_id": "ENSP00000566674.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 259,
"cds_start": 428,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896615.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.404C>A",
"hgvs_p": "p.Thr135Asn",
"transcript": "ENST00000896617.1",
"protein_id": "ENSP00000566676.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 251,
"cds_start": 404,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896617.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn",
"transcript": "ENST00000896616.1",
"protein_id": "ENSP00000566675.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 240,
"cds_start": 437,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896616.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.345C>A",
"hgvs_p": "p.His115Gln",
"transcript": "ENST00000896618.1",
"protein_id": "ENSP00000566677.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 206,
"cds_start": 345,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896618.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Thr76Asn",
"transcript": "ENST00000896619.1",
"protein_id": "ENSP00000566678.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 192,
"cds_start": 227,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896619.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Thr189Asn",
"transcript": "XM_011530229.3",
"protein_id": "XP_011528531.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 305,
"cds_start": 566,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530229.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.452C>A",
"hgvs_p": "p.Thr151Asn",
"transcript": "XM_011530230.3",
"protein_id": "XP_011528532.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 267,
"cds_start": 452,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530230.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Thr76Asn",
"transcript": "XM_011530231.4",
"protein_id": "XP_011528533.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 192,
"cds_start": 227,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530231.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Thr49Asn",
"transcript": "XM_005261638.5",
"protein_id": "XP_005261695.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 165,
"cds_start": 146,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261638.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Thr49Asn",
"transcript": "XM_011530232.2",
"protein_id": "XP_011528534.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 165,
"cds_start": 146,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530232.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Thr31Asn",
"transcript": "XM_047441411.1",
"protein_id": "XP_047297367.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 147,
"cds_start": 92,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000940472.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 6,
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"biotype": "pseudogene",
"feature": "ENST00000466645.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PMM1",
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"transcript": "ENST00000472620.5",
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"biotype": "retained_intron",
"feature": "ENST00000472620.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "PMM1",
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"feature": "ENST00000482178.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 7,
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"gene_symbol": "PMM1",
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"transcript": "ENST00000485648.5",
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"feature": "ENST00000485648.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "PMM1",
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"hgvs_c": "n.*342C>A",
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"transcript": "ENST00000414636.1",
"protein_id": "ENSP00000400889.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000414636.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
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"gene_symbol": "PMM1",
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"hgvs_c": "n.*10C>A",
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"transcript": "ENST00000478337.1",
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"transcript_support_level": 2,
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"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": "ENST00000478337.1"
}
],
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"dbsnp": "rs749651441",
"frequency_reference_population": 0.0000049573423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000273676,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8296580910682678,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1758,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.512,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_002676.3",
"gene_symbol": "PMM1",
"hgnc_id": 9114,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Thr146Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}