← 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: 17-75266745-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75266745&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MIF4GD",
"hgnc_id": 24030,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001242498.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MRPS7",
"hgnc_id": 14499,
"hgvs_c": "c.*43+779C>T",
"hgvs_p": null,
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000886316.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.1551,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08684736490249634,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 802,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001370592.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325102.13",
"protein_coding": true,
"protein_id": "NP_001357521.1",
"strand": false,
"transcript": "NM_001370592.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 802,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000325102.13",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370592.1",
"protein_coding": true,
"protein_id": "ENSP00000321625.8",
"strand": false,
"transcript": "ENST00000325102.13",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 883,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000618645.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484245.1",
"strand": false,
"transcript": "ENST00000618645.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 954,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886607.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556666.1",
"strand": false,
"transcript": "ENST00000886607.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941500.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611559.1",
"strand": false,
"transcript": "ENST00000941500.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 290,
"aa_ref": "D",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 883,
"cds_end": null,
"cds_length": 873,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000581777.2",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Asp290Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463493.2",
"strand": false,
"transcript": "ENST00000581777.2",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 925,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001242498.2",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229427.1",
"strand": false,
"transcript": "NM_001242498.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 973,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365751.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352680.1",
"strand": false,
"transcript": "NM_001365751.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000577542.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463334.1",
"strand": false,
"transcript": "ENST00000577542.5",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579194.6",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462655.2",
"strand": false,
"transcript": "ENST00000579194.6",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 921,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000579297.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462459.1",
"strand": false,
"transcript": "ENST00000579297.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886603.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556662.1",
"strand": false,
"transcript": "ENST00000886603.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886605.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556664.1",
"strand": false,
"transcript": "ENST00000886605.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886611.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556670.1",
"strand": false,
"transcript": "ENST00000886611.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886613.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556672.1",
"strand": false,
"transcript": "ENST00000886613.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886614.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556673.1",
"strand": false,
"transcript": "ENST00000886614.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 826,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001242500.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229429.1",
"strand": false,
"transcript": "NM_001242500.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 904,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020679.4",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065730.2",
"strand": false,
"transcript": "NM_020679.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": 846,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000245551.9",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000245551.5",
"strand": false,
"transcript": "ENST00000245551.9",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886604.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556663.1",
"strand": false,
"transcript": "ENST00000886604.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886610.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556669.1",
"strand": false,
"transcript": "ENST00000886610.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941499.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611558.1",
"strand": false,
"transcript": "ENST00000941499.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 251,
"aa_ref": "D",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 756,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001411093.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398022.1",
"strand": false,
"transcript": "NM_001411093.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 251,
"aa_ref": "D",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": 783,
"cds_end": null,
"cds_length": 756,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000579119.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463579.1",
"strand": false,
"transcript": "ENST00000579119.5",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1241,
"cdna_start": 724,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001242501.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229430.1",
"strand": false,
"transcript": "NM_001242501.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365752.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352681.1",
"strand": false,
"transcript": "NM_001365752.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1566,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365753.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352682.1",
"strand": false,
"transcript": "NM_001365753.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 870,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365754.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352683.1",
"strand": false,
"transcript": "NM_001365754.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 850,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365755.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352684.1",
"strand": false,
"transcript": "NM_001365755.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 991,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886606.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556665.1",
"strand": false,
"transcript": "ENST00000886606.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886609.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556668.1",
"strand": false,
"transcript": "ENST00000886609.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 869,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886615.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556674.1",
"strand": false,
"transcript": "ENST00000886615.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 669,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941501.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611560.1",
"strand": false,
"transcript": "ENST00000941501.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 211,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 775,
"cds_end": null,
"cds_length": 636,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886601.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556660.1",
"strand": false,
"transcript": "ENST00000886601.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 211,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 636,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000941498.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611557.1",
"strand": false,
"transcript": "ENST00000941498.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 204,
"aa_ref": "D",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 688,
"cds_end": null,
"cds_length": 615,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886608.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Asp204Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556667.1",
"strand": false,
"transcript": "ENST00000886608.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1163,
"cdna_start": 646,
"cds_end": null,
"cds_length": 513,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363806.2",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350735.1",
"strand": false,
"transcript": "NM_001363806.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": 642,
"cds_end": null,
"cds_length": 513,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000580571.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462412.1",
"strand": false,
"transcript": "ENST00000580571.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 513,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886602.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556661.1",
"strand": false,
"transcript": "ENST00000886602.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 766,
"cds_end": null,
"cds_length": 513,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886612.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556671.1",
"strand": false,
"transcript": "ENST00000886612.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436441.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292397.1",
"strand": false,
"transcript": "XM_047436441.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436444.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292400.1",
"strand": false,
"transcript": "XM_047436444.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436445.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292401.1",
"strand": false,
"transcript": "XM_047436445.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436446.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292402.1",
"strand": false,
"transcript": "XM_047436446.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 879,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436447.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292403.1",
"strand": false,
"transcript": "XM_047436447.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 285,
"aa_ref": "D",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 858,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436442.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Asp285Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292398.1",
"strand": false,
"transcript": "XM_047436442.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 285,
"aa_ref": "D",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 991,
"cds_end": null,
"cds_length": 858,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436448.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Asp285Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292404.1",
"strand": false,
"transcript": "XM_047436448.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436450.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292406.1",
"strand": false,
"transcript": "XM_047436450.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 993,
"cds_end": null,
"cds_length": 792,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047436451.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292407.1",
"strand": false,
"transcript": "XM_047436451.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 952,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011525052.3",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523354.2",
"strand": false,
"transcript": "XM_011525052.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 251,
"aa_ref": "D",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 937,
"cds_end": null,
"cds_length": 756,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436443.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292399.1",
"strand": false,
"transcript": "XM_047436443.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 251,
"aa_ref": "D",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": 889,
"cds_end": null,
"cds_length": 756,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436452.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292408.1",
"strand": false,
"transcript": "XM_047436452.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 233,
"aa_ref": "D",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 835,
"cds_end": null,
"cds_length": 702,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436454.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Asp233Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292410.1",
"strand": false,
"transcript": "XM_047436454.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 211,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1334,
"cdna_start": 817,
"cds_end": null,
"cds_length": 636,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011525054.3",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523356.2",
"strand": false,
"transcript": "XM_011525054.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 211,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 769,
"cds_end": null,
"cds_length": 636,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436455.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292411.1",
"strand": false,
"transcript": "XM_047436455.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 204,
"aa_ref": "D",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 949,
"cds_end": null,
"cds_length": 615,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047436456.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Asp204Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292412.1",
"strand": false,
"transcript": "XM_047436456.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 199,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": 781,
"cds_end": null,
"cds_length": 600,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436449.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292405.1",
"strand": false,
"transcript": "XM_047436449.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 199,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 733,
"cds_end": null,
"cds_length": 600,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436457.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292413.1",
"strand": false,
"transcript": "XM_047436457.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 694,
"cds_end": null,
"cds_length": 513,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011525055.3",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523357.2",
"strand": false,
"transcript": "XM_011525055.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 847,
"cds_end": null,
"cds_length": 513,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436458.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292414.1",
"strand": false,
"transcript": "XM_047436458.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000649805.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.*523G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498095.1",
"strand": false,
"transcript": "ENST00000649805.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 41,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": 126,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000578305.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.*272G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463629.1",
"strand": false,
"transcript": "ENST00000578305.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886316.1",
"gene_hgnc_id": 14499,
"gene_symbol": "MRPS7",
"hgvs_c": "c.*43+779C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556375.1",
"strand": true,
"transcript": "ENST00000886316.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912532.1",
"gene_hgnc_id": 14499,
"gene_symbol": "MRPS7",
"hgvs_c": "c.*43+779C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582591.1",
"strand": true,
"transcript": "ENST00000912532.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941392.1",
"gene_hgnc_id": 14499,
"gene_symbol": "MRPS7",
"hgvs_c": "c.*41+781C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611451.1",
"strand": true,
"transcript": "ENST00000941392.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000678201.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "n.1347G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000678201.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": null,
"cds_end": null,
"cds_length": 614,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580717.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.*50G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464448.1",
"strand": true,
"transcript": "ENST00000580717.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 586,
"cdna_start": null,
"cds_end": null,
"cds_length": 509,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579612.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.*188G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463264.1",
"strand": true,
"transcript": "ENST00000579612.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200088097",
"effect": "missense_variant",
"frequency_reference_population": 0.00002911771,
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"gnomad_exomes_ac": 43,
"gnomad_exomes_af": 0.000029415,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.000026264,
"gnomad_genomes_homalt": 0,
"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": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.719,
"pos": 75266745,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.104,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001242498.2"
}
]
}