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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: 18-23601263-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23601263&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23601263,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173505.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "NM_173505.4",
"protein_id": "NP_775776.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 301,
"cds_start": 869,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592179.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173505.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000592179.6",
"protein_id": "ENSP00000468354.1",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 301,
"cds_start": 869,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173505.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592179.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Arg258His",
"transcript": "ENST00000965701.1",
"protein_id": "ENSP00000635760.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 269,
"cds_start": 773,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "NM_001308238.2",
"protein_id": "NP_001295167.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 268,
"cds_start": 770,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308238.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000322980.13",
"protein_id": "ENSP00000323387.9",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 268,
"cds_start": 770,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322980.13"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000863695.1",
"protein_id": "ENSP00000533754.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 268,
"cds_start": 770,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863695.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000863696.1",
"protein_id": "ENSP00000533755.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 268,
"cds_start": 770,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863696.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000863698.1",
"protein_id": "ENSP00000533757.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 268,
"cds_start": 770,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863698.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000863700.1",
"protein_id": "ENSP00000533759.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 268,
"cds_start": 770,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863700.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "ENST00000863697.1",
"protein_id": "ENSP00000533756.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 264,
"cds_start": 758,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863697.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225His",
"transcript": "ENST00000965702.1",
"protein_id": "ENSP00000635761.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 236,
"cds_start": 674,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965702.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "ENST00000863701.1",
"protein_id": "ENSP00000533760.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 235,
"cds_start": 671,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "ENST00000863704.1",
"protein_id": "ENSP00000533763.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 235,
"cds_start": 671,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863704.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "ENST00000863705.1",
"protein_id": "ENSP00000533764.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 235,
"cds_start": 671,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863705.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "ENST00000965698.1",
"protein_id": "ENSP00000635757.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 235,
"cds_start": 671,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965698.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "ENST00000965700.1",
"protein_id": "ENSP00000635759.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 235,
"cds_start": 671,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965700.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000863706.1",
"protein_id": "ENSP00000533765.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 203,
"cds_start": 575,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863706.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000863702.1",
"protein_id": "ENSP00000533761.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 572,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863702.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000863703.1",
"protein_id": "ENSP00000533762.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 572,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000863707.1",
"protein_id": "ENSP00000533766.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 572,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863707.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159His",
"transcript": "ENST00000965699.1",
"protein_id": "ENSP00000635758.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 170,
"cds_start": 476,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965699.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154His",
"transcript": "ENST00000965703.1",
"protein_id": "ENSP00000635762.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 165,
"cds_start": 461,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965703.1"
},
{
"aa_ref": "R",
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{
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{
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{
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{
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{
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{
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],
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{
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],
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{
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "ANKRD29",
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"transcript": "ENST00000591617.1",
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"biotype": "retained_intron",
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],
"gene_symbol": "ANKRD29",
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"dbsnp": "rs368245092",
"frequency_reference_population": 0.000051429237,
"hom_count_reference_population": 1,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000383089,
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"gnomad_exomes_ac": 56,
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"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0395025908946991,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.054,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_173505.4",
"gene_symbol": "ANKRD29",
"hgnc_id": 27110,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}