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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: 12-57230918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57230918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57230918,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005412.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "NM_005412.6",
"protein_id": "NP_005403.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 504,
"cds_start": 149,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328923.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005412.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000328923.8",
"protein_id": "ENSP00000333667.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 504,
"cds_start": 149,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005412.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328923.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000557487.5",
"protein_id": "ENSP00000452315.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 494,
"cds_start": 149,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557487.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Leu",
"transcript": "ENST00000414700.7",
"protein_id": "ENSP00000406881.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 483,
"cds_start": 86,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414700.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "ENST00000555774.5",
"protein_id": "ENSP00000451872.1",
"transcript_support_level": 1,
"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": "ENST00000555774.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.149C>T",
"hgvs_p": null,
"transcript": "ENST00000556825.5",
"protein_id": "ENSP00000451169.1",
"transcript_support_level": 1,
"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": "ENST00000556825.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.149C>T",
"hgvs_p": null,
"transcript": "ENST00000557433.5",
"protein_id": "ENSP00000450610.1",
"transcript_support_level": 1,
"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": "ENST00000557433.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000894753.1",
"protein_id": "ENSP00000564812.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 545,
"cds_start": 149,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894753.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000894754.1",
"protein_id": "ENSP00000564813.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 513,
"cds_start": 149,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894754.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000894751.1",
"protein_id": "ENSP00000564810.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 509,
"cds_start": 149,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894751.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000925589.1",
"protein_id": "ENSP00000595648.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 504,
"cds_start": 149,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925589.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000925590.1",
"protein_id": "ENSP00000595649.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 504,
"cds_start": 149,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925590.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000925591.1",
"protein_id": "ENSP00000595650.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 504,
"cds_start": 149,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925591.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000925592.1",
"protein_id": "ENSP00000595651.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 496,
"cds_start": 149,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925592.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "NM_001166356.2",
"protein_id": "NP_001159828.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 494,
"cds_start": 149,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166356.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000894752.1",
"protein_id": "ENSP00000564811.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 492,
"cds_start": 149,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894752.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Leu",
"transcript": "NM_001166357.1",
"protein_id": "NP_001159829.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 483,
"cds_start": 86,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166357.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Leu",
"transcript": "NM_001166358.2",
"protein_id": "NP_001159830.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 483,
"cds_start": 86,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166358.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Leu",
"transcript": "NM_001166359.1",
"protein_id": "NP_001159831.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 483,
"cds_start": 86,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166359.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Leu",
"transcript": "ENST00000449049.7",
"protein_id": "ENSP00000413770.3",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 483,
"cds_start": 86,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449049.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ser29Leu",
"transcript": "ENST00000553474.5",
"protein_id": "ENSP00000452419.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 483,
"cds_start": 86,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553474.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "ENST00000925593.1",
"protein_id": "ENSP00000595652.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 425,
"cds_start": 149,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925593.1"
},
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"gene_symbol": "SHMT2",
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"hgvs_c": "n.219C>T",
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"transcript": "NR_029416.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_029416.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.217C>T",
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"transcript": "NR_029417.2",
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_029417.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.417C>T",
"hgvs_p": null,
"transcript": "NR_048562.1",
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"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048562.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.-172-795C>T",
"hgvs_p": null,
"transcript": "ENST00000557269.5",
"protein_id": "ENSP00000450594.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000557269.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"hgvs_c": "n.-244C>T",
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"transcript": "ENST00000553868.1",
"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": "retained_intron",
"feature": "ENST00000553868.1"
}
],
"gene_symbol": "SHMT2",
"gene_hgnc_id": 10852,
"dbsnp": "rs73338162",
"frequency_reference_population": 0.011818844,
"hom_count_reference_population": 304,
"allele_count_reference_population": 19075,
"gnomad_exomes_af": 0.0101943,
"gnomad_genomes_af": 0.027428,
"gnomad_exomes_ac": 14902,
"gnomad_genomes_ac": 4173,
"gnomad_exomes_homalt": 173,
"gnomad_genomes_homalt": 131,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0030794143676757812,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.379,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005412.6",
"gene_symbol": "SHMT2",
"hgnc_id": 10852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}