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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: 21-43029953-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43029953&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43029953,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004571.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "NM_004571.5",
"protein_id": "NP_004562.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291547.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004571.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000291547.10",
"protein_id": "ENSP00000291547.4",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004571.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291547.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ser429Leu",
"transcript": "ENST00000911566.1",
"protein_id": "ENSP00000581625.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 477,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911566.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Ser428Leu",
"transcript": "ENST00000883907.1",
"protein_id": "ENSP00000553966.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 476,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883907.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000883906.1",
"protein_id": "ENSP00000553965.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883906.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000883911.1",
"protein_id": "ENSP00000553970.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883911.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000883912.1",
"protein_id": "ENSP00000553971.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883912.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000911564.1",
"protein_id": "ENSP00000581623.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911564.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000911567.1",
"protein_id": "ENSP00000581626.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911567.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000911568.1",
"protein_id": "ENSP00000581627.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911568.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "ENST00000963001.1",
"protein_id": "ENSP00000633060.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963001.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ser387Leu",
"transcript": "NM_001320694.2",
"protein_id": "NP_001307623.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 435,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320694.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ser387Leu",
"transcript": "ENST00000883905.1",
"protein_id": "ENSP00000553964.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 435,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883905.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ser387Leu",
"transcript": "ENST00000883910.1",
"protein_id": "ENSP00000553969.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 435,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883910.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Ser386Leu",
"transcript": "ENST00000883908.1",
"protein_id": "ENSP00000553967.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 434,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883908.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Ser386Leu",
"transcript": "ENST00000963002.1",
"protein_id": "ENSP00000633061.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 434,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963002.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ser385Leu",
"transcript": "ENST00000883909.1",
"protein_id": "ENSP00000553968.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 433,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883909.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ser385Leu",
"transcript": "ENST00000911565.1",
"protein_id": "ENSP00000581624.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 433,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911565.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Ser322Leu",
"transcript": "ENST00000911563.1",
"protein_id": "ENSP00000581622.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 370,
"cds_start": 965,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911563.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ser271Leu",
"transcript": "NM_001286258.2",
"protein_id": "NP_001273187.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 319,
"cds_start": 812,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286258.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ser271Leu",
"transcript": "ENST00000432907.6",
"protein_id": "ENSP00000402243.2",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 319,
"cds_start": 812,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432907.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX1",
"gene_hgnc_id": 9022,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu",
"transcript": "XM_047440826.1",
"protein_id": "XP_047296782.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 436,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
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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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"feature": "ENST00000560448.5"
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{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PKNOX1",
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"biotype": "pseudogene",
"feature": "ENST00000557820.5"
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],
"gene_symbol": "PKNOX1",
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"dbsnp": null,
"frequency_reference_population": 0.0000034203376,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342034,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6194431185722351,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.567,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3001,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.163,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004571.5",
"gene_symbol": "PKNOX1",
"hgnc_id": 9022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Ser388Leu"
}
],
"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
}