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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: 3-69956469-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69956469&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69956469,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000352241.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Arg324Gly",
"transcript": "NM_001354604.2",
"protein_id": "NP_001341533.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 526,
"cds_start": 970,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "ENST00000352241.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Arg324Gly",
"transcript": "ENST00000352241.9",
"protein_id": "ENSP00000295600.8",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 526,
"cds_start": 970,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "NM_001354604.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "NM_000248.4",
"protein_id": "NP_000239.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 419,
"cds_start": 649,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "ENST00000394351.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "ENST00000394351.9",
"protein_id": "ENSP00000377880.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 419,
"cds_start": 649,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "NM_000248.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "ENST00000314557.10",
"protein_id": "ENSP00000324246.6",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 413,
"cds_start": 631,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Arg155Gly",
"transcript": "ENST00000531774.1",
"protein_id": "ENSP00000435909.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 357,
"cds_start": 463,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "NM_001354605.2",
"protein_id": "NP_001341534.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 525,
"cds_start": 967,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Arg318Gly",
"transcript": "NM_198159.3",
"protein_id": "NP_937802.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 520,
"cds_start": 952,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Arg318Gly",
"transcript": "ENST00000642352.1",
"protein_id": "ENSP00000494105.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 520,
"cds_start": 952,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Arg317Gly",
"transcript": "NM_001354606.2",
"protein_id": "NP_001341535.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 519,
"cds_start": 949,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Arg317Gly",
"transcript": "NM_006722.3",
"protein_id": "NP_006713.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 519,
"cds_start": 949,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Arg317Gly",
"transcript": "ENST00000448226.9",
"protein_id": "ENSP00000391803.3",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 519,
"cds_start": 949,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Arg302Gly",
"transcript": "NM_198177.3",
"protein_id": "NP_937820.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 504,
"cds_start": 904,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Arg302Gly",
"transcript": "ENST00000314589.11",
"protein_id": "ENSP00000324443.5",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 504,
"cds_start": 904,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Arg301Gly",
"transcript": "NM_001354607.2",
"protein_id": "NP_001341536.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 503,
"cds_start": 901,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Arg301Gly",
"transcript": "ENST00000687384.1",
"protein_id": "ENSP00000510225.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 503,
"cds_start": 901,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000693031.1",
"protein_id": "ENSP00000509845.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 495,
"cds_start": 877,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Arg266Gly",
"transcript": "NM_001184967.2",
"protein_id": "NP_001171896.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 468,
"cds_start": 796,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Arg266Gly",
"transcript": "NM_001354608.2",
"protein_id": "NP_001341537.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 468,
"cds_start": 796,
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"cdna_start": 1125,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Arg266Gly",
"transcript": "ENST00000472437.5",
"protein_id": "ENSP00000418845.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 468,
"cds_start": 796,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "NM_198158.3",
"protein_id": "NP_937801.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 413,
"cds_start": 631,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.904A>G",
"hgvs_p": "p.Arg302Gly",
"transcript": "ENST00000693549.1",
"protein_id": "ENSP00000509358.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.922A>G",
"hgvs_p": "p.Arg308Gly",
"transcript": "ENST00000451708.5",
"protein_id": "ENSP00000398639.1",
"transcript_support_level": 5,
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},
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{
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{
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},
{
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}
],
"gene_symbol": "MITF",
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"dbsnp": "rs1057519326",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.954757034778595,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.949,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.254,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000352241.9",
"gene_symbol": "MITF",
"hgnc_id": 7105,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Arg324Gly"
}
],
"clinvar_disease": " albinism, and deafness, macrocephaly, microphthalmia, osteopetrosis,Coloboma,Waardenburg syndrome type 2A",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness|Waardenburg syndrome type 2A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}