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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: 14-67203167-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67203167&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67203167,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173526.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "NM_001395907.1",
"protein_id": "NP_001382836.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 417,
"cds_start": 233,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696955.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395907.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696955.1",
"protein_id": "ENSP00000512992.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 417,
"cds_start": 233,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395907.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696955.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000534174.5",
"protein_id": "ENSP00000432195.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 400,
"cds_start": 233,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534174.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "NM_173526.4",
"protein_id": "NP_775797.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 422,
"cds_start": 233,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173526.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000612183.4",
"protein_id": "ENSP00000483154.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 422,
"cds_start": 233,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612183.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696958.1",
"protein_id": "ENSP00000512995.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 417,
"cds_start": 233,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696958.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696957.1",
"protein_id": "ENSP00000512994.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 413,
"cds_start": 233,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696957.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696961.1",
"protein_id": "ENSP00000512998.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 398,
"cds_start": 233,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696961.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696956.1",
"protein_id": "ENSP00000512993.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 384,
"cds_start": 233,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696956.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696960.1",
"protein_id": "ENSP00000512997.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 252,
"cds_start": 233,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696960.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "ENST00000696959.1",
"protein_id": "ENSP00000512996.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 147,
"cds_start": 233,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696959.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "XM_011536500.2",
"protein_id": "XP_011534802.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 422,
"cds_start": 233,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536500.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"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": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "XM_011536503.3",
"protein_id": "XP_011534805.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 422,
"cds_start": 233,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536503.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "XM_047431031.1",
"protein_id": "XP_047286987.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 422,
"cds_start": 233,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431031.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "XM_047431033.1",
"protein_id": "XP_047286989.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 417,
"cds_start": 233,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431033.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"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": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr",
"transcript": "XM_047431034.1",
"protein_id": "XP_047286990.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 417,
"cds_start": 233,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431034.1"
},
{
"aa_ref": "?",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.???78???",
"transcript": "ENST00000530728.5",
"protein_id": "ENSP00000433183.1",
"transcript_support_level": 4,
"aa_start": 78,
"aa_end": null,
"aa_length": 76,
"cds_start": 233,
"cds_end": null,
"cds_length": 233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530728.5"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1312+144381G>C",
"hgvs_p": null,
"transcript": "XM_047430879.1",
"protein_id": "XP_047286835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "n.*289G>C",
"hgvs_p": null,
"transcript": "ENST00000556046.5",
"protein_id": "ENSP00000451865.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556046.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "n.*218G>C",
"hgvs_p": null,
"transcript": "ENST00000557671.2",
"protein_id": "ENSP00000450695.2",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557671.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "n.*289G>C",
"hgvs_p": null,
"transcript": "ENST00000556046.5",
"protein_id": "ENSP00000451865.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556046.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "n.*218G>C",
"hgvs_p": null,
"transcript": "ENST00000557671.2",
"protein_id": "ENSP00000450695.2",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557671.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "n.255-1G>C",
"hgvs_p": null,
"transcript": "ENST00000531566.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000531566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"hgvs_c": "c.*37G>C",
"hgvs_p": null,
"transcript": "ENST00000524532.5",
"protein_id": "ENSP00000436280.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524532.5"
}
],
"gene_symbol": "GARIN2",
"gene_hgnc_id": 20101,
"dbsnp": "rs147757954",
"frequency_reference_population": 0.00017226444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 278,
"gnomad_exomes_af": 0.000172404,
"gnomad_genomes_af": 0.000170927,
"gnomad_exomes_ac": 252,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18750005960464478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1128,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.5,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_173526.4",
"gene_symbol": "GARIN2",
"hgnc_id": 20101,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Ser78Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_047430879.1",
"gene_symbol": "GPHN",
"hgnc_id": 15465,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1312+144381G>C",
"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
}