← Back to variant description
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: 2-62993546-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=62993546&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 62993546,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015252.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "NM_001142616.3",
"protein_id": "NP_001136088.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "ENST00000431489.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142616.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "ENST00000431489.6",
"protein_id": "ENSP00000403783.1",
"transcript_support_level": 1,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "NM_001142616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431489.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "ENST00000263991.9",
"protein_id": "ENSP00000263991.5",
"transcript_support_level": 1,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263991.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "ENST00000405289.5",
"protein_id": "ENSP00000385524.1",
"transcript_support_level": 1,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "n.366T>C",
"hgvs_p": null,
"transcript": "ENST00000496857.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496857.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "NM_001354212.1",
"protein_id": "NP_001341141.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354212.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "NM_001354213.1",
"protein_id": "NP_001341142.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354213.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "NM_001354214.1",
"protein_id": "NP_001341143.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354214.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "NM_015252.5",
"protein_id": "NP_056067.2",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3598,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015252.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "ENST00000861125.1",
"protein_id": "ENSP00000531184.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3288,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861125.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Leu987Pro",
"transcript": "NM_001354215.1",
"protein_id": "NP_001341144.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354215.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Leu987Pro",
"transcript": "NM_001354216.2",
"protein_id": "NP_001341145.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3697,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354216.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "NM_001142614.2",
"protein_id": "NP_001136086.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142614.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "NM_001354217.1",
"protein_id": "NP_001341146.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354217.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "NM_001142615.3",
"protein_id": "NP_001136087.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142615.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "NM_001354218.1",
"protein_id": "NP_001341147.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354218.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "ENST00000405015.7",
"protein_id": "ENSP00000384143.3",
"transcript_support_level": 2,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3278,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405015.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "ENST00000861116.1",
"protein_id": "ENSP00000531175.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861116.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "ENST00000861124.1",
"protein_id": "ENSP00000531183.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861124.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Leu916Pro",
"transcript": "NM_001354219.2",
"protein_id": "NP_001341148.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3382,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354219.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Leu916Pro",
"transcript": "NM_001354220.1",
"protein_id": "NP_001341149.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3113,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354220.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Leu916Pro",
"transcript": "ENST00000861118.1",
"protein_id": "ENSP00000531177.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861118.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2654T>C",
"hgvs_p": "p.Leu885Pro",
"transcript": "ENST00000861122.1",
"protein_id": "ENSP00000531181.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861122.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2117T>C",
"hgvs_p": "p.Leu706Pro",
"transcript": "NM_001354221.2",
"protein_id": "NP_001341150.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 949,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354221.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2117T>C",
"hgvs_p": "p.Leu706Pro",
"transcript": "ENST00000946019.1",
"protein_id": "ENSP00000616078.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 949,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946019.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "ENST00000861117.1",
"protein_id": "ENSP00000531176.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861117.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "ENST00000861120.1",
"protein_id": "ENSP00000531179.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861120.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "ENST00000861126.1",
"protein_id": "ENSP00000531185.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861126.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1904T>C",
"hgvs_p": "p.Leu635Pro",
"transcript": "ENST00000861121.1",
"protein_id": "ENSP00000531180.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 893,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861121.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1904T>C",
"hgvs_p": "p.Leu635Pro",
"transcript": "NM_001354222.2",
"protein_id": "NP_001341151.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 878,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354222.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1904T>C",
"hgvs_p": "p.Leu635Pro",
"transcript": "ENST00000861119.1",
"protein_id": "ENSP00000531178.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 878,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861119.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1904T>C",
"hgvs_p": "p.Leu635Pro",
"transcript": "ENST00000861123.1",
"protein_id": "ENSP00000531182.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 878,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861123.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1901T>C",
"hgvs_p": "p.Leu634Pro",
"transcript": "ENST00000861127.1",
"protein_id": "ENSP00000531186.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 877,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861127.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Leu615Pro",
"transcript": "ENST00000861128.1",
"protein_id": "ENSP00000531187.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 855,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861128.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "ENST00000422032.1",
"protein_id": "ENSP00000388442.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 221,
"cds_start": 440,
"cds_end": null,
"cds_length": 668,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422032.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "XM_005264226.4",
"protein_id": "XP_005264283.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3700,
"cdna_end": null,
"cdna_length": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264226.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "XM_011532715.4",
"protein_id": "XP_011531017.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3311,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532715.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "XM_047443744.1",
"protein_id": "XP_047299700.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3464,
"cdna_end": null,
"cdna_length": 5184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443744.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "XM_047443745.1",
"protein_id": "XP_047299701.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443745.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "XM_005264227.2",
"protein_id": "XP_005264284.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 5213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264227.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "XM_047443746.1",
"protein_id": "XP_047299702.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443746.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "XM_047443747.1",
"protein_id": "XP_047299703.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3224,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443747.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "XM_047443748.1",
"protein_id": "XP_047299704.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443748.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2858T>C",
"hgvs_p": "p.Leu953Pro",
"transcript": "XM_047443749.1",
"protein_id": "XP_047299705.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443749.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_006711971.4",
"protein_id": "XP_006712034.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 5210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711971.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_017003650.2",
"protein_id": "XP_016859139.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3235,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003650.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_047443750.1",
"protein_id": "XP_047299706.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 5210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443750.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_047443751.1",
"protein_id": "XP_047299707.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3235,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443751.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_047443752.1",
"protein_id": "XP_047299708.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 5312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443752.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_047443753.1",
"protein_id": "XP_047299709.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443753.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2855T>C",
"hgvs_p": "p.Leu952Pro",
"transcript": "XM_047443754.1",
"protein_id": "XP_047299710.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443754.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2852T>C",
"hgvs_p": "p.Leu951Pro",
"transcript": "XM_011532717.3",
"protein_id": "XP_011531019.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3487,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532717.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "XM_047443755.1",
"protein_id": "XP_047299711.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3487,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443755.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "XM_047443756.1",
"protein_id": "XP_047299712.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443756.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Leu917Pro",
"transcript": "XM_047443757.1",
"protein_id": "XP_047299713.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443757.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Leu916Pro",
"transcript": "XM_047443758.1",
"protein_id": "XP_047299714.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443758.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Leu916Pro",
"transcript": "XM_047443759.1",
"protein_id": "XP_047299715.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443759.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Leu868Pro",
"transcript": "XM_011532718.4",
"protein_id": "XP_011531020.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532718.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2114T>C",
"hgvs_p": "p.Leu705Pro",
"transcript": "XM_047443760.1",
"protein_id": "XP_047299716.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 948,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2749,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443760.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "XM_047443761.1",
"protein_id": "XP_047299717.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443761.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "XM_047443762.1",
"protein_id": "XP_047299718.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443762.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "XM_047443763.1",
"protein_id": "XP_047299719.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443763.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "XM_047443764.1",
"protein_id": "XP_047299720.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443764.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2012T>C",
"hgvs_p": "p.Leu671Pro",
"transcript": "XM_047443765.1",
"protein_id": "XP_047299721.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 914,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2749,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443765.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2009T>C",
"hgvs_p": "p.Leu670Pro",
"transcript": "XM_047443766.1",
"protein_id": "XP_047299722.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 913,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443766.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2009T>C",
"hgvs_p": "p.Leu670Pro",
"transcript": "XM_047443767.1",
"protein_id": "XP_047299723.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 913,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443767.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2009T>C",
"hgvs_p": "p.Leu670Pro",
"transcript": "XM_047443768.1",
"protein_id": "XP_047299724.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 913,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443768.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2006T>C",
"hgvs_p": "p.Leu669Pro",
"transcript": "XM_047443769.1",
"protein_id": "XP_047299725.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 912,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443769.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1904T>C",
"hgvs_p": "p.Leu635Pro",
"transcript": "XM_047443770.1",
"protein_id": "XP_047299726.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 878,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443770.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1904T>C",
"hgvs_p": "p.Leu635Pro",
"transcript": "XM_047443771.1",
"protein_id": "XP_047299727.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 878,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443771.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1901T>C",
"hgvs_p": "p.Leu634Pro",
"transcript": "XM_047443772.1",
"protein_id": "XP_047299728.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 877,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443772.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.1901T>C",
"hgvs_p": "p.Leu634Pro",
"transcript": "XM_047443773.1",
"protein_id": "XP_047299729.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 877,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "n.155T>C",
"hgvs_p": null,
"transcript": "ENST00000491965.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EHBP1-AS1",
"gene_hgnc_id": 55766,
"hgvs_c": "n.572+20013A>G",
"hgvs_p": null,
"transcript": "ENST00000650490.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000650490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EHBP1-AS1",
"gene_hgnc_id": 55766,
"hgvs_c": "n.389+21044A>G",
"hgvs_p": null,
"transcript": "ENST00000766974.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000766974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EHBP1-AS1",
"gene_hgnc_id": 55766,
"hgvs_c": "n.566+21044A>G",
"hgvs_p": null,
"transcript": "ENST00000766975.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000766975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EHBP1-AS1",
"gene_hgnc_id": 55766,
"hgvs_c": "n.379+21044A>G",
"hgvs_p": null,
"transcript": "ENST00000766976.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000766976.1"
}
],
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"dbsnp": "rs1277122410",
"frequency_reference_population": 0.0000013860321,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138603,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07368886470794678,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.953,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015252.5",
"gene_symbol": "EHBP1",
"hgnc_id": 29144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000650490.1",
"gene_symbol": "EHBP1-AS1",
"hgnc_id": 55766,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.572+20013A>G",
"hgvs_p": null
}
],
"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
}