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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-32940899-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32940899&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 32940899,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015544.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "NM_015544.3",
"protein_id": "NP_056359.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579849.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015544.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000579849.6",
"protein_id": "ENSP00000463245.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015544.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579849.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "NM_001033504.2",
"protein_id": "NP_001028676.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033504.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "NM_001301746.2",
"protein_id": "NP_001288675.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301746.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000394642.7",
"protein_id": "ENSP00000378138.3",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394642.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000851236.1",
"protein_id": "ENSP00000521295.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851236.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000851237.1",
"protein_id": "ENSP00000521296.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851237.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000851238.1",
"protein_id": "ENSP00000521297.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851238.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000851239.1",
"protein_id": "ENSP00000521298.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851239.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000851240.1",
"protein_id": "ENSP00000521299.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851240.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000851242.1",
"protein_id": "ENSP00000521301.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851242.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000921793.1",
"protein_id": "ENSP00000591852.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921793.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000921794.1",
"protein_id": "ENSP00000591853.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921794.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000921796.1",
"protein_id": "ENSP00000591855.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921796.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000960315.1",
"protein_id": "ENSP00000630374.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960315.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000960316.1",
"protein_id": "ENSP00000630375.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960316.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000960318.1",
"protein_id": "ENSP00000630377.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960318.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000960319.1",
"protein_id": "ENSP00000630378.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960319.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000960320.1",
"protein_id": "ENSP00000630379.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 587,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960320.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.His196Pro",
"transcript": "ENST00000439138.5",
"protein_id": "ENSP00000406394.1",
"transcript_support_level": 3,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439138.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.527A>C",
"hgvs_p": "p.His176Pro",
"transcript": "ENST00000851241.1",
"protein_id": "ENSP00000521300.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 206,
"cds_start": 527,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851241.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM98",
"gene_hgnc_id": 24529,
"hgvs_c": "c.527A>C",
"hgvs_p": "p.His176Pro",
"transcript": "ENST00000960317.1",
"protein_id": "ENSP00000630376.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 206,
"cds_start": 527,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960317.1"
},
{
"aa_ref": "H",
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{
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{
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{
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{
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],
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],
"gene_symbol": "TMEM98",
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"dbsnp": "rs869312733",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7677924633026123,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.732,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015544.3",
"gene_symbol": "TMEM98",
"hgnc_id": 24529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Nanophthalmos 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nanophthalmos 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}