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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-109740984-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=109740984&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 109740984,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394634.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1661A>T",
"hgvs_p": "p.Glu554Val",
"transcript": "NM_000204.5",
"protein_id": "NP_000195.3",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 583,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": "ENST00000394634.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1661A>T",
"hgvs_p": "p.Glu554Val",
"transcript": "ENST00000394634.7",
"protein_id": "ENSP00000378130.2",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 583,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": "NM_000204.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285330",
"gene_hgnc_id": null,
"hgvs_c": "c.1534+1507A>T",
"hgvs_p": null,
"transcript": "ENST00000645635.1",
"protein_id": "ENSP00000493607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1685A>T",
"hgvs_p": "p.Glu562Val",
"transcript": "NM_001318057.2",
"protein_id": "NP_001304986.2",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 591,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1685A>T",
"hgvs_p": "p.Glu562Val",
"transcript": "ENST00000394635.8",
"protein_id": "ENSP00000378131.3",
"transcript_support_level": 2,
"aa_start": 562,
"aa_end": null,
"aa_length": 591,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1682A>T",
"hgvs_p": "p.Glu561Val",
"transcript": "NM_001440986.1",
"protein_id": "NP_001427915.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 590,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Glu547Val",
"transcript": "NM_001331035.2",
"protein_id": "NP_001317964.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 576,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Glu547Val",
"transcript": "ENST00000512148.5",
"protein_id": "ENSP00000427438.1",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 576,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1604A>T",
"hgvs_p": "p.Glu535Val",
"transcript": "NM_001375283.1",
"protein_id": "NP_001362212.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 564,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1052A>T",
"hgvs_p": "p.Glu351Val",
"transcript": "NM_001375284.1",
"protein_id": "NP_001362213.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 380,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.2078A>T",
"hgvs_p": null,
"transcript": "ENST00000504853.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.1685A>T",
"hgvs_p": null,
"transcript": "ENST00000695846.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.1408A>T",
"hgvs_p": null,
"transcript": "NR_164671.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.1711A>T",
"hgvs_p": null,
"transcript": "NR_164672.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.1685A>T",
"hgvs_p": null,
"transcript": "NR_164673.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.*361A>T",
"hgvs_p": null,
"transcript": "NM_001440989.1",
"protein_id": "NP_001427918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": -4,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.*361A>T",
"hgvs_p": null,
"transcript": "NM_001440991.1",
"protein_id": "NP_001427920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.*361A>T",
"hgvs_p": null,
"transcript": "XM_006714210.5",
"protein_id": "XP_006714273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1558+1507A>T",
"hgvs_p": null,
"transcript": "NM_001375278.1",
"protein_id": "NP_001362207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1555+1507A>T",
"hgvs_p": null,
"transcript": "NM_001440985.1",
"protein_id": "NP_001427914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1534+1507A>T",
"hgvs_p": null,
"transcript": "NM_001375279.1",
"protein_id": "NP_001362208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1513+1507A>T",
"hgvs_p": null,
"transcript": "NM_001375280.1",
"protein_id": "NP_001362209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1558+1507A>T",
"hgvs_p": null,
"transcript": "NM_001440988.1",
"protein_id": "NP_001427917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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{
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}
],
"gene_symbol": "CFI",
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"dbsnp": "rs754572081",
"frequency_reference_population": 0.000046466157,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
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"gnomad_genomes_af": 0.0000131384,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48024284839630127,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.359,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394634.7",
"gene_symbol": "CFI",
"hgnc_id": 5394,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1661A>T",
"hgvs_p": "p.Glu554Val"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645635.1",
"gene_symbol": "ENSG00000285330",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1534+1507A>T",
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}
],
"clinvar_disease": "Atypical hemolytic-uremic syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "Atypical hemolytic-uremic syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}