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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: 2-73913565-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73913565&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73913565,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001615.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "NM_001615.4",
"protein_id": "NP_001606.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345517.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001615.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000345517.8",
"protein_id": "ENSP00000295137.3",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001615.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345517.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Cys",
"transcript": "ENST00000880128.1",
"protein_id": "ENSP00000550187.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 405,
"cds_start": 619,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880128.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Cys",
"transcript": "ENST00000958365.1",
"protein_id": "ENSP00000628424.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 402,
"cds_start": 610,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958365.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000409624.1",
"protein_id": "ENSP00000386857.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409624.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000880130.1",
"protein_id": "ENSP00000550189.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880130.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000880131.1",
"protein_id": "ENSP00000550190.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880131.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000880132.1",
"protein_id": "ENSP00000550191.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880132.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958362.1",
"protein_id": "ENSP00000628421.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958362.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958366.1",
"protein_id": "ENSP00000628425.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958366.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958368.1",
"protein_id": "ENSP00000628427.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958368.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958370.1",
"protein_id": "ENSP00000628429.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958370.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958371.1",
"protein_id": "ENSP00000628430.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958371.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958372.1",
"protein_id": "ENSP00000628431.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958372.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958373.1",
"protein_id": "ENSP00000628432.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 376,
"cds_start": 532,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958373.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000958367.1",
"protein_id": "ENSP00000628426.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 375,
"cds_start": 532,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958367.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"transcript": "ENST00000958369.1",
"protein_id": "ENSP00000628428.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 362,
"cds_start": 490,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958369.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000880129.1",
"protein_id": "ENSP00000550188.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 344,
"cds_start": 436,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880129.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Cys",
"transcript": "ENST00000958364.1",
"protein_id": "ENSP00000628423.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 339,
"cds_start": 421,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958364.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "NM_001199893.2",
"protein_id": "NP_001186822.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 333,
"cds_start": 403,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199893.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "ENST00000409731.7",
"protein_id": "ENSP00000386929.3",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 333,
"cds_start": 403,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409731.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "ENST00000958363.1",
"protein_id": "ENSP00000628422.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 333,
"cds_start": 403,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"exon_count": 8,
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"transcript": "ENST00000880127.1",
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{
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],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "ACTG2",
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"hgvs_c": "n.*287C>T",
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"transcript": "ENST00000429756.5",
"protein_id": "ENSP00000392894.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429756.5"
},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
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{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "ACTG2",
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"hgvs_c": "n.*287C>T",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429756.5"
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{
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"3_prime_UTR_variant"
],
"exon_rank": 7,
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"gene_symbol": "ACTG2",
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"transcript": "ENST00000438902.6",
"protein_id": "ENSP00000410706.2",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438902.6"
}
],
"gene_symbol": "ACTG2",
"gene_hgnc_id": 145,
"dbsnp": "rs78001248",
"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": 0.9660519957542419,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.98,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 17,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 17,
"benign_score": 0,
"pathogenic_score": 17,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001615.4",
"gene_symbol": "ACTG2",
"hgnc_id": 145,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys"
}
],
"clinvar_disease": "ACTG2-related disorder,Megacystis-microcolon-intestinal hypoperistalsis syndrome 5,Visceral myopathy 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 O:1",
"phenotype_combined": "Visceral myopathy 1|not provided|ACTG2-related disorder|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}