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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: 2-179115076-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=179115076&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 179115076,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_178123.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "NM_178123.5",
"protein_id": "NP_835224.3",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 10671,
"mane_select": "ENST00000428443.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178123.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000428443.8",
"protein_id": "ENSP00000415332.2",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 10671,
"mane_select": "NM_178123.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428443.8"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Asn615Asp",
"transcript": "ENST00000949563.1",
"protein_id": "ENSP00000619622.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 701,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949563.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000854639.1",
"protein_id": "ENSP00000524698.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854639.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000854640.1",
"protein_id": "ENSP00000524699.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854640.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000949562.1",
"protein_id": "ENSP00000619621.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949562.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000949565.1",
"protein_id": "ENSP00000619624.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949565.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000949566.1",
"protein_id": "ENSP00000619625.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949566.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000949567.1",
"protein_id": "ENSP00000619626.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 696,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949567.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1819A>G",
"hgvs_p": "p.Asn607Asp",
"transcript": "ENST00000854636.1",
"protein_id": "ENSP00000524695.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 693,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854636.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1717A>G",
"hgvs_p": "p.Asn573Asp",
"transcript": "ENST00000949561.1",
"protein_id": "ENSP00000619620.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 659,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949561.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1714A>G",
"hgvs_p": "p.Asn572Asp",
"transcript": "ENST00000949564.1",
"protein_id": "ENSP00000619623.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 658,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949564.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Asn569Asp",
"transcript": "ENST00000854635.1",
"protein_id": "ENSP00000524694.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 655,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854635.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1636A>G",
"hgvs_p": "p.Asn546Asp",
"transcript": "ENST00000854638.1",
"protein_id": "ENSP00000524697.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 632,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854638.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1594A>G",
"hgvs_p": "p.Asn532Asp",
"transcript": "ENST00000932265.1",
"protein_id": "ENSP00000602324.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 618,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932265.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Asn620Asp",
"transcript": "XM_047446273.1",
"protein_id": "XP_047302229.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 706,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 10475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446273.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1735A>G",
"hgvs_p": "p.Asn579Asp",
"transcript": "XM_047446274.1",
"protein_id": "XP_047302230.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 665,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 10354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446274.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Asn528Asp",
"transcript": "XM_011512141.3",
"protein_id": "XP_011510443.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 614,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 10167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512141.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"transcript": "XM_047446275.1",
"protein_id": "XP_047302231.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 543,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 10271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1755+73A>G",
"hgvs_p": null,
"transcript": "ENST00000854637.1",
"protein_id": "ENSP00000524696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "n.*545A>G",
"hgvs_p": null,
"transcript": "ENST00000335289.5",
"protein_id": "ENSP00000334183.5",
"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": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000335289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "n.*227A>G",
"hgvs_p": null,
"transcript": "ENST00000446758.5",
"protein_id": "ENSP00000410632.1",
"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": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446758.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "n.*545A>G",
"hgvs_p": null,
"transcript": "ENST00000335289.5",
"protein_id": "ENSP00000334183.5",
"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": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000335289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "n.*227A>G",
"hgvs_p": null,
"transcript": "ENST00000446758.5",
"protein_id": "ENSP00000410632.1",
"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": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446758.5"
}
],
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"dbsnp": "rs1429981035",
"frequency_reference_population": 0.000008695318,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.0000041156,
"gnomad_genomes_af": 0.0000525638,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12268230319023132,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0952,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.422,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -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_178123.5",
"gene_symbol": "SESTD1",
"hgnc_id": 18379,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp"
}
],
"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
}