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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: 17-18328861-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18328861&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18328861,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004169.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "NM_004169.5",
"protein_id": "NP_004160.3",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316694.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004169.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000316694.8",
"protein_id": "ENSP00000318868.3",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004169.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316694.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000583780.2",
"protein_id": "ENSP00000462041.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000583780.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1224G>T",
"hgvs_p": "p.Glu408Asp",
"transcript": "ENST00000354098.7",
"protein_id": "ENSP00000318805.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 444,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354098.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "n.1664G>T",
"hgvs_p": null,
"transcript": "ENST00000395684.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000395684.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1584G>T",
"hgvs_p": "p.Glu528Asp",
"transcript": "ENST00000926103.1",
"protein_id": "ENSP00000596162.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 564,
"cds_start": 1584,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926103.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Glu503Asp",
"transcript": "ENST00000886390.1",
"protein_id": "ENSP00000556449.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 539,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886390.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1392G>T",
"hgvs_p": "p.Glu464Asp",
"transcript": "ENST00000886395.1",
"protein_id": "ENSP00000556454.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 500,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886395.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1392G>T",
"hgvs_p": "p.Glu464Asp",
"transcript": "ENST00000926101.1",
"protein_id": "ENSP00000596160.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 500,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926101.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886362.1",
"protein_id": "ENSP00000556421.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886362.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886363.1",
"protein_id": "ENSP00000556422.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886363.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886368.1",
"protein_id": "ENSP00000556427.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886368.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886375.1",
"protein_id": "ENSP00000556434.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886375.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886379.1",
"protein_id": "ENSP00000556438.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886379.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886381.1",
"protein_id": "ENSP00000556440.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886381.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886382.1",
"protein_id": "ENSP00000556441.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886382.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886384.1",
"protein_id": "ENSP00000556443.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886384.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886391.1",
"protein_id": "ENSP00000556450.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886391.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886392.1",
"protein_id": "ENSP00000556451.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886392.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886397.1",
"protein_id": "ENSP00000556456.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886397.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886398.1",
"protein_id": "ENSP00000556457.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886398.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"transcript": "ENST00000886400.1",
"protein_id": "ENSP00000556459.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 483,
"cds_start": 1341,
"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": "ENST00000886400.1"
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"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
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"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Glu367Asp",
"transcript": "XM_011523992.4",
"protein_id": "XP_011522294.1",
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"aa_start": 367,
"aa_end": null,
"aa_length": 403,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523992.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Glu367Asp",
"transcript": "XM_024450887.2",
"protein_id": "XP_024306655.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 403,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450887.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "n.*838G>T",
"hgvs_p": null,
"transcript": "ENST00000580002.5",
"protein_id": "ENSP00000462043.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000580002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"hgvs_c": "n.*838G>T",
"hgvs_p": null,
"transcript": "ENST00000580002.5",
"protein_id": "ENSP00000462043.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000580002.5"
}
],
"gene_symbol": "SHMT1",
"gene_hgnc_id": 10850,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04462188482284546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.377,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004169.5",
"gene_symbol": "SHMT1",
"hgnc_id": 10850,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp"
}
],
"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
}