← 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: 1-16977114-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16977114&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MFAP2",
"hgnc_id": 7033,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_002403.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286898",
"hgnc_id": null,
"hgvs_c": "n.281+552T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000654887.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105376806",
"hgnc_id": null,
"hgvs_c": "n.702+552T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "XR_947003.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 87,
"alphamissense_prediction": null,
"alphamissense_score": 0.1218,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "1",
"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": 0.0739571750164032,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": 197,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002403.4",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375535.4",
"protein_coding": true,
"protein_id": "NP_002394.1",
"strand": false,
"transcript": "NM_002403.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": 197,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375535.4",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002403.4",
"protein_coding": true,
"protein_id": "ENSP00000364685.3",
"strand": false,
"transcript": "ENST00000375535.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 213,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 227,
"cds_end": null,
"cds_length": 642,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930335.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600394.1",
"strand": false,
"transcript": "ENST00000930335.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 204,
"aa_ref": "Q",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": 295,
"cds_end": null,
"cds_length": 615,
"cds_start": 185,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930331.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Gln62Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600390.1",
"strand": false,
"transcript": "ENST00000930331.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 199,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1124,
"cdna_start": 228,
"cds_end": null,
"cds_length": 600,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930334.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600393.1",
"strand": false,
"transcript": "ENST00000930334.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1081,
"cdna_start": 233,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_017459.3",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_059453.1",
"strand": false,
"transcript": "NM_017459.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 266,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884385.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554444.1",
"strand": false,
"transcript": "ENST00000884385.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1071,
"cdna_start": 223,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884388.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554447.1",
"strand": false,
"transcript": "ENST00000884388.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 251,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884389.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554448.1",
"strand": false,
"transcript": "ENST00000884389.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": 356,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930328.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600387.1",
"strand": false,
"transcript": "ENST00000930328.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 313,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930332.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600391.1",
"strand": false,
"transcript": "ENST00000930332.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 440,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930339.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600398.1",
"strand": false,
"transcript": "ENST00000930339.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 412,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930340.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600399.1",
"strand": false,
"transcript": "ENST00000930340.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": 376,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930341.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600400.1",
"strand": false,
"transcript": "ENST00000930341.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 182,
"aa_ref": "Q",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 230,
"cds_end": null,
"cds_length": 549,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135247.2",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128719.1",
"strand": false,
"transcript": "NM_001135247.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 182,
"aa_ref": "Q",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 194,
"cds_end": null,
"cds_length": 549,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135248.2",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128720.1",
"strand": false,
"transcript": "NM_001135248.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 182,
"aa_ref": "Q",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 970,
"cdna_start": 122,
"cds_end": null,
"cds_length": 549,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375534.7",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364684.3",
"strand": false,
"transcript": "ENST00000375534.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 181,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": 191,
"cds_end": null,
"cds_length": 546,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954861.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624920.1",
"strand": false,
"transcript": "ENST00000954861.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 170,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 235,
"cds_end": null,
"cds_length": 513,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930333.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600392.1",
"strand": false,
"transcript": "ENST00000930333.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 168,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": 191,
"cds_end": null,
"cds_length": 507,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930338.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600397.1",
"strand": false,
"transcript": "ENST00000930338.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": 193,
"cds_end": null,
"cds_length": 465,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884387.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554446.1",
"strand": false,
"transcript": "ENST00000884387.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 153,
"aa_ref": "Q",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 253,
"cds_end": null,
"cds_length": 462,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930329.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600388.1",
"strand": false,
"transcript": "ENST00000930329.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 139,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 227,
"cds_end": null,
"cds_length": 420,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930336.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600395.1",
"strand": false,
"transcript": "ENST00000930336.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 796,
"cds_end": null,
"cds_length": 552,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047421027.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Gln41Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276983.1",
"strand": false,
"transcript": "XM_047421027.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 153,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 965,
"cdna_start": null,
"cds_end": null,
"cds_length": 462,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884386.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.38-191A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554445.1",
"strand": false,
"transcript": "ENST00000884386.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 144,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": null,
"cds_end": null,
"cds_length": 435,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930330.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.38-320A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600389.1",
"strand": false,
"transcript": "ENST00000930330.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 124,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": null,
"cds_end": null,
"cds_length": 375,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930337.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "c.38-191A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600396.1",
"strand": false,
"transcript": "ENST00000930337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000476788.5",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "n.209A>G",
"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": "ENST00000476788.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 657,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000478684.5",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "n.163A>G",
"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": "ENST00000478684.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000490075.5",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "n.1236A>G",
"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": "ENST00000490075.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000492598.1",
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"hgvs_c": "n.163A>G",
"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": "ENST00000492598.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 408,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000654887.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286898",
"hgvs_c": "n.281+552T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000654887.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 829,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_947003.3",
"gene_hgnc_id": null,
"gene_symbol": "LOC105376806",
"hgvs_c": "n.702+552T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_947003.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs111622901",
"effect": "missense_variant",
"frequency_reference_population": 0.000053906217,
"gene_hgnc_id": 7033,
"gene_symbol": "MFAP2",
"gnomad_exomes_ac": 40,
"gnomad_exomes_af": 0.0000273667,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 47,
"gnomad_genomes_af": 0.000308634,
"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": "Benign",
"phylop100way_score": 2.224,
"pos": 16977114,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.068,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002403.4"
}
]
}