← Back to variant description
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: X-153952837-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153952837&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HCFC1",
"hgnc_id": 4839,
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001440843.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0807,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.98,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " type cblX,Methylmalonic acidemia with homocystinuria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01876688003540039,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2035,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8876,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 6108,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_005334.3",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310441.12",
"protein_coding": true,
"protein_id": "NP_005325.2",
"strand": false,
"transcript": "NM_005334.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2035,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8876,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 6108,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000310441.12",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005334.3",
"protein_coding": true,
"protein_id": "ENSP00000309555.7",
"strand": false,
"transcript": "ENST00000310441.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 5729,
"cds_end": null,
"cds_length": 6249,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440843.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427772.1",
"strand": false,
"transcript": "NM_001440843.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9030,
"cdna_start": 5742,
"cds_end": null,
"cds_length": 6249,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925202.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595261.1",
"strand": false,
"transcript": "ENST00000925202.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9011,
"cdna_start": 5729,
"cds_end": null,
"cds_length": 6243,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001410705.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397634.1",
"strand": false,
"transcript": "NM_001410705.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8375,
"cdna_start": 5095,
"cds_end": null,
"cds_length": 6243,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000369984.4",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359001.4",
"strand": false,
"transcript": "ENST00000369984.4",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9008,
"cdna_start": 5729,
"cds_end": null,
"cds_length": 6240,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440844.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427773.1",
"strand": false,
"transcript": "NM_001440844.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "T",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9008,
"cdna_start": 5726,
"cds_end": null,
"cds_length": 6240,
"cds_start": 4748,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440845.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4748C>G",
"hgvs_p": "p.Thr1583Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427774.1",
"strand": false,
"transcript": "NM_001440845.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9620,
"cdna_start": 6338,
"cds_end": null,
"cds_length": 6240,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925198.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595257.1",
"strand": false,
"transcript": "ENST00000925198.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "T",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9005,
"cdna_start": 5726,
"cds_end": null,
"cds_length": 6237,
"cds_start": 4748,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440846.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4748C>G",
"hgvs_p": "p.Thr1583Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427775.1",
"strand": false,
"transcript": "NM_001440846.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "T",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9299,
"cdna_start": 6020,
"cds_end": null,
"cds_length": 6237,
"cds_start": 4748,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925201.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4748C>G",
"hgvs_p": "p.Thr1583Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595260.1",
"strand": false,
"transcript": "ENST00000925201.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2072,
"aa_ref": "T",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8986,
"cdna_start": 5708,
"cds_end": null,
"cds_length": 6219,
"cds_start": 4730,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925204.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4730C>G",
"hgvs_p": "p.Thr1577Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595263.1",
"strand": false,
"transcript": "ENST00000925204.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8888,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 6120,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440847.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427776.1",
"strand": false,
"transcript": "NM_001440847.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2039,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8894,
"cdna_start": 5605,
"cds_end": null,
"cds_length": 6120,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925203.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595262.1",
"strand": false,
"transcript": "ENST00000925203.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2038,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8885,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 6117,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440848.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427777.1",
"strand": false,
"transcript": "NM_001440848.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2038,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10307,
"cdna_start": 5896,
"cds_end": null,
"cds_length": 6117,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925197.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595256.1",
"strand": false,
"transcript": "ENST00000925197.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8879,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 6111,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440849.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427778.1",
"strand": false,
"transcript": "NM_001440849.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2034,
"aa_ref": "T",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9174,
"cdna_start": 5898,
"cds_end": null,
"cds_length": 6105,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925200.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4619C>G",
"hgvs_p": "p.Thr1540Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595259.1",
"strand": false,
"transcript": "ENST00000925200.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2028,
"aa_ref": "T",
"aa_start": 1533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8213,
"cdna_start": 4937,
"cds_end": null,
"cds_length": 6087,
"cds_start": 4598,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925205.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4598C>G",
"hgvs_p": "p.Thr1533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595264.1",
"strand": false,
"transcript": "ENST00000925205.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2013,
"aa_ref": "T",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8810,
"cdna_start": 5531,
"cds_end": null,
"cds_length": 6042,
"cds_start": 4553,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001440850.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4553C>G",
"hgvs_p": "p.Thr1518Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427779.1",
"strand": false,
"transcript": "NM_001440850.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1969,
"aa_ref": "T",
"aa_start": 1474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8678,
"cdna_start": 5399,
"cds_end": null,
"cds_length": 5910,
"cds_start": 4421,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001440851.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4421C>G",
"hgvs_p": "p.Thr1474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427780.1",
"strand": false,
"transcript": "NM_001440851.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1969,
"aa_ref": "T",
"aa_start": 1474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9266,
"cdna_start": 5986,
"cds_end": null,
"cds_length": 5910,
"cds_start": 4421,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000925199.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4421C>G",
"hgvs_p": "p.Thr1474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595258.1",
"strand": false,
"transcript": "ENST00000925199.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1862,
"aa_ref": "T",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7741,
"cdna_start": 4459,
"cds_end": null,
"cds_length": 5589,
"cds_start": 4100,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000960407.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4100C>G",
"hgvs_p": "p.Thr1367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630466.1",
"strand": false,
"transcript": "ENST00000960407.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 610,
"aa_ref": "T",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1833,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000444191.5",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.341C>G",
"hgvs_p": "p.Thr114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399589.1",
"strand": false,
"transcript": "ENST00000444191.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2083,
"aa_ref": "T",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9020,
"cdna_start": 5729,
"cds_end": null,
"cds_length": 6252,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442051.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4751C>G",
"hgvs_p": "p.Thr1584Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298007.1",
"strand": false,
"transcript": "XM_047442051.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 5726,
"cds_end": null,
"cds_length": 6249,
"cds_start": 4748,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442053.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4748C>G",
"hgvs_p": "p.Thr1583Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298009.1",
"strand": false,
"transcript": "XM_047442053.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2081,
"aa_ref": "T",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9014,
"cdna_start": 5726,
"cds_end": null,
"cds_length": 6246,
"cds_start": 4748,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442054.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4748C>G",
"hgvs_p": "p.Thr1583Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298010.1",
"strand": false,
"transcript": "XM_047442054.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2017,
"aa_ref": "T",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8822,
"cdna_start": 5531,
"cds_end": null,
"cds_length": 6054,
"cds_start": 4553,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047442058.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4553C>G",
"hgvs_p": "p.Thr1518Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298014.1",
"strand": false,
"transcript": "XM_047442058.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1970,
"aa_ref": "T",
"aa_start": 1474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8681,
"cdna_start": 5399,
"cds_end": null,
"cds_length": 5913,
"cds_start": 4421,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047442059.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.4421C>G",
"hgvs_p": "p.Thr1474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298015.1",
"strand": false,
"transcript": "XM_047442059.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1780,
"aa_ref": "T",
"aa_start": 1281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7223,
"cdna_start": 3932,
"cds_end": null,
"cds_length": 5343,
"cds_start": 3842,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047442061.1",
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"hgvs_c": "c.3842C>G",
"hgvs_p": "p.Thr1281Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298017.1",
"strand": false,
"transcript": "XM_047442061.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs781788935",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4839,
"gene_symbol": "HCFC1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Methylmalonic acidemia with homocystinuria, type cblX",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.041,
"pos": 153952837,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.092,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001440843.1"
}
]
}