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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: 2-73913626-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73913626&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73913626,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001615.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "NM_001615.4",
"protein_id": "NP_001606.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": "ENST00000345517.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001615.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000345517.8",
"protein_id": "ENSP00000295137.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": "NM_001615.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345517.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.680G>C",
"hgvs_p": "p.Gly227Ala",
"transcript": "ENST00000880128.1",
"protein_id": "ENSP00000550187.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 405,
"cds_start": 680,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880128.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.671G>C",
"hgvs_p": "p.Gly224Ala",
"transcript": "ENST00000958365.1",
"protein_id": "ENSP00000628424.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 402,
"cds_start": 671,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958365.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000409624.1",
"protein_id": "ENSP00000386857.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409624.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000880130.1",
"protein_id": "ENSP00000550189.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880130.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000880131.1",
"protein_id": "ENSP00000550190.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880131.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000880132.1",
"protein_id": "ENSP00000550191.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880132.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958362.1",
"protein_id": "ENSP00000628421.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958362.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958366.1",
"protein_id": "ENSP00000628425.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958366.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958368.1",
"protein_id": "ENSP00000628427.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958368.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958370.1",
"protein_id": "ENSP00000628429.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958370.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958371.1",
"protein_id": "ENSP00000628430.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958371.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958372.1",
"protein_id": "ENSP00000628431.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958372.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958373.1",
"protein_id": "ENSP00000628432.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 376,
"cds_start": 593,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958373.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.593G>C",
"hgvs_p": "p.Gly198Ala",
"transcript": "ENST00000958367.1",
"protein_id": "ENSP00000628426.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 375,
"cds_start": 593,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958367.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.551G>C",
"hgvs_p": "p.Gly184Ala",
"transcript": "ENST00000958369.1",
"protein_id": "ENSP00000628428.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 362,
"cds_start": 551,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958369.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.497G>C",
"hgvs_p": "p.Gly166Ala",
"transcript": "ENST00000880129.1",
"protein_id": "ENSP00000550188.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 344,
"cds_start": 497,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880129.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.482G>C",
"hgvs_p": "p.Gly161Ala",
"transcript": "ENST00000958364.1",
"protein_id": "ENSP00000628423.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 339,
"cds_start": 482,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958364.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.464G>C",
"hgvs_p": "p.Gly155Ala",
"transcript": "NM_001199893.2",
"protein_id": "NP_001186822.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 333,
"cds_start": 464,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199893.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.464G>C",
"hgvs_p": "p.Gly155Ala",
"transcript": "ENST00000409731.7",
"protein_id": "ENSP00000386929.3",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 333,
"cds_start": 464,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409731.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.464G>C",
"hgvs_p": "p.Gly155Ala",
"transcript": "ENST00000958363.1",
"protein_id": "ENSP00000628422.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 333,
"cds_start": 464,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958363.1"
},
{
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{
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{
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{
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],
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"frequency_reference_population": 6.847167e-7,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.84717e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9632362723350525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.958,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001615.4",
"gene_symbol": "ACTG2",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Gly198Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}