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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: 19-803609-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=803609&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 803609,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002819.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000350092.8",
"protein_id": "ENSP00000342332.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "NM_002819.5",
"protein_id": "NP_002810.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 557,
"cds_start": 88,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000356948.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "ENST00000356948.11",
"protein_id": "ENSP00000349428.4",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 557,
"cds_start": 88,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_002819.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "ENST00000394601.8",
"protein_id": "ENSP00000408096.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 550,
"cds_start": 88,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "ENST00000349038.8",
"protein_id": "ENSP00000014112.5",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 531,
"cds_start": 88,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000350092.8",
"protein_id": "ENSP00000342332.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000586481.5",
"protein_id": "ENSP00000468565.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "ENST00000635647.1",
"protein_id": "ENSP00000489604.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 588,
"cds_start": 88,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "NM_001411140.1",
"protein_id": "NP_001398069.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 559,
"cds_start": 94,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "ENST00000679114.1",
"protein_id": "ENSP00000504829.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 559,
"cds_start": 94,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "NM_031990.4",
"protein_id": "NP_114367.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 550,
"cds_start": 88,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "NM_031991.4",
"protein_id": "NP_114368.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 531,
"cds_start": 88,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val",
"transcript": "ENST00000589575.5",
"protein_id": "ENSP00000465652.2",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 236,
"cds_start": 88,
"cds_end": null,
"cds_length": 713,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ile11Val",
"transcript": "ENST00000585535.2",
"protein_id": "ENSP00000466250.2",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 103,
"cds_start": 31,
"cds_end": null,
"cds_length": 312,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "XM_005259598.3",
"protein_id": "XP_005259655.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 533,
"cds_start": 94,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "XM_047439114.1",
"protein_id": "XP_047295070.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 383,
"cds_start": 94,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.158A>G",
"hgvs_p": null,
"transcript": "ENST00000586944.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000590887.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.35A>G",
"hgvs_p": null,
"transcript": "ENST00000592113.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.188A>G",
"hgvs_p": null,
"transcript": "ENST00000592804.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.88A>G",
"hgvs_p": null,
"transcript": "ENST00000676227.1",
"protein_id": "ENSP00000501551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "n.88A>G",
"hgvs_p": null,
"transcript": "ENST00000677277.1",
"protein_id": "ENSP00000504032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.-3A>G",
"hgvs_p": null,
"transcript": "ENST00000586481.5",
"protein_id": "ENSP00000468565.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.39+4166A>G",
"hgvs_p": null,
"transcript": "ENST00000627714.2",
"protein_id": "ENSP00000486218.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"hgvs_c": "c.-66+4166A>G",
"hgvs_p": null,
"transcript": "ENST00000587191.3",
"protein_id": "ENSP00000478974.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
"cds_length": 245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTBP1",
"gene_hgnc_id": 9583,
"dbsnp": "rs1268615109",
"frequency_reference_population": 0.000006195595,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615662,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1503407061100006,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1394,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.965,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002819.5",
"gene_symbol": "PTBP1",
"hgnc_id": 9583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Ile30Val"
}
],
"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
}