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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: 3-69959325-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69959325&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69959325,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000352241.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362*",
"transcript": "NM_001354604.2",
"protein_id": "NP_001341533.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 526,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "ENST00000352241.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362*",
"transcript": "ENST00000352241.9",
"protein_id": "ENSP00000295600.8",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 526,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "NM_001354604.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "NM_000248.4",
"protein_id": "NP_000239.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 419,
"cds_start": 763,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "ENST00000394351.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "ENST00000394351.9",
"protein_id": "ENSP00000377880.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 419,
"cds_start": 763,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "NM_000248.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.745C>T",
"hgvs_p": "p.Arg249*",
"transcript": "ENST00000314557.10",
"protein_id": "ENSP00000324246.6",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 413,
"cds_start": 745,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.577C>T",
"hgvs_p": "p.Arg193*",
"transcript": "ENST00000531774.1",
"protein_id": "ENSP00000435909.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 357,
"cds_start": 577,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361*",
"transcript": "NM_001354605.2",
"protein_id": "NP_001341534.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 525,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Arg356*",
"transcript": "NM_198159.3",
"protein_id": "NP_937802.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 520,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Arg356*",
"transcript": "ENST00000642352.1",
"protein_id": "ENSP00000494105.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 520,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355*",
"transcript": "NM_001354606.2",
"protein_id": "NP_001341535.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 519,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355*",
"transcript": "NM_006722.3",
"protein_id": "NP_006713.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 519,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355*",
"transcript": "ENST00000448226.9",
"protein_id": "ENSP00000391803.3",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 519,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Arg340*",
"transcript": "NM_198177.3",
"protein_id": "NP_937820.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 504,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Arg340*",
"transcript": "ENST00000314589.11",
"protein_id": "ENSP00000324443.5",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 504,
"cds_start": 1018,
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"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "NM_001354607.2",
"protein_id": "NP_001341536.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 503,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "ENST00000687384.1",
"protein_id": "ENSP00000510225.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 503,
"cds_start": 1015,
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"cdna_start": 1337,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331*",
"transcript": "ENST00000693031.1",
"protein_id": "ENSP00000509845.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 495,
"cds_start": 991,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"transcript": "NM_001184967.2",
"protein_id": "NP_001171896.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 468,
"cds_start": 910,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"transcript": "NM_001354608.2",
"protein_id": "NP_001341537.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 468,
"cds_start": 910,
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"cdna_start": 1239,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"transcript": "ENST00000472437.5",
"protein_id": "ENSP00000418845.1",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 468,
"cds_start": 910,
"cds_end": null,
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"cdna_start": 1099,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.745C>T",
"hgvs_p": "p.Arg249*",
"transcript": "NM_198158.3",
"protein_id": "NP_937801.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 413,
"cds_start": 745,
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"cdna_start": 876,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Arg340*",
"transcript": "ENST00000693549.1",
"protein_id": "ENSP00000509358.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 373,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346*",
"transcript": "ENST00000451708.5",
"protein_id": "ENSP00000398639.1",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
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"cds_start": 1036,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "MITF",
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"hgvs_p": "p.Arg193*",
"transcript": "NM_198178.3",
"protein_id": "NP_937821.2",
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"aa_start": 193,
"aa_end": null,
"aa_length": 357,
"cds_start": 577,
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"cdna_length": 4289,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
"intron_rank": null,
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"transcript": "ENST00000478490.5",
"protein_id": "ENSP00000433487.1",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 13,
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"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "n.1240C>T",
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"transcript": "ENST00000689390.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 9,
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"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "n.*410C>T",
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"transcript": "ENST00000478490.5",
"protein_id": "ENSP00000433487.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"dbsnp": "rs1057517966",
"frequency_reference_population": 6.8408343e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84083e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.931,
"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,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000352241.9",
"gene_symbol": "MITF",
"hgnc_id": 7105,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362*"
}
],
"clinvar_disease": " 8, cutaneous malignant, susceptibility to,Congenital sensorineural hearing impairment,MITF-related disorder,Melanoma,Tietz syndrome,Waardenburg syndrome type 2A,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "not provided|Waardenburg syndrome type 2A|MITF-related disorder|Congenital sensorineural hearing impairment|Waardenburg syndrome type 2A;Tietz syndrome;Melanoma, cutaneous malignant, susceptibility to, 8",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}