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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: 4-155804593-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155804593&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 155804593,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001291951.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1555A>G",
"hgvs_p": "p.Ile519Val",
"transcript": "NM_000857.5",
"protein_id": "NP_000848.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 619,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264424.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000857.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1555A>G",
"hgvs_p": "p.Ile519Val",
"transcript": "ENST00000264424.13",
"protein_id": "ENSP00000264424.8",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 619,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000857.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264424.13"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "ENST00000507146.5",
"protein_id": "ENSP00000422313.1",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 594,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507146.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "ENST00000503520.5",
"protein_id": "ENSP00000420842.1",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 586,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503520.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Ile451Val",
"transcript": "ENST00000505154.5",
"protein_id": "ENSP00000427226.1",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 551,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505154.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Ile570Val",
"transcript": "ENST00000971853.1",
"protein_id": "ENSP00000641912.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 670,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971853.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1651A>G",
"hgvs_p": "p.Ile551Val",
"transcript": "ENST00000652626.1",
"protein_id": "ENSP00000498984.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 651,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652626.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Ile544Val",
"transcript": "ENST00000971852.1",
"protein_id": "ENSP00000641911.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 644,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971852.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val",
"transcript": "NM_001291951.3",
"protein_id": "NP_001278880.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 641,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291951.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val",
"transcript": "ENST00000502959.5",
"protein_id": "ENSP00000426786.1",
"transcript_support_level": 2,
"aa_start": 541,
"aa_end": null,
"aa_length": 641,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502959.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1609A>G",
"hgvs_p": "p.Ile537Val",
"transcript": "ENST00000971855.1",
"protein_id": "ENSP00000641914.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 637,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971855.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Ile528Val",
"transcript": "ENST00000879916.1",
"protein_id": "ENSP00000549975.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 628,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879916.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "ENST00000971854.1",
"protein_id": "ENSP00000641913.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 623,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971854.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1555A>G",
"hgvs_p": "p.Ile519Val",
"transcript": "ENST00000879919.1",
"protein_id": "ENSP00000549978.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 615,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879919.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1495A>G",
"hgvs_p": "p.Ile499Val",
"transcript": "NM_001291952.3",
"protein_id": "NP_001278881.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 599,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291952.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1495A>G",
"hgvs_p": "p.Ile499Val",
"transcript": "ENST00000505764.5",
"protein_id": "ENSP00000426319.1",
"transcript_support_level": 2,
"aa_start": 499,
"aa_end": null,
"aa_length": 599,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505764.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "NM_001291953.3",
"protein_id": "NP_001278882.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 594,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291953.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "NM_001291954.3",
"protein_id": "NP_001278883.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 586,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291954.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Ile476Val",
"transcript": "ENST00000936140.1",
"protein_id": "ENSP00000606199.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 576,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936140.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000879917.1",
"protein_id": "ENSP00000549976.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 572,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879917.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ile453Val",
"transcript": "ENST00000879918.1",
"protein_id": "ENSP00000549977.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 553,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879918.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
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"mane_plus": null,
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{
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"splice_region_variant"
],
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"gene_symbol": "GUCY1B1",
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"transcript": "ENST00000513437.1",
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"biotype": "protein_coding",
"feature": "ENST00000513437.1"
},
{
"aa_ref": "I",
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"protein_coding": true,
"strand": true,
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"missense_variant",
"splice_region_variant"
],
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"exon_count": 13,
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"gene_symbol": "GUCY1B1",
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"hgvs_c": "c.1258A>G",
"hgvs_p": "p.Ile420Val",
"transcript": "ENST00000879920.1",
"protein_id": "ENSP00000549979.1",
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"aa_start": 420,
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"cds_end": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879920.1"
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{
"aa_ref": "I",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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"gene_symbol": "GUCY1B1",
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"hgvs_c": "c.1684A>G",
"hgvs_p": "p.Ile562Val",
"transcript": "XM_011531901.2",
"protein_id": "XP_011530203.1",
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"aa_start": 562,
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"aa_length": 662,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1989,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531901.2"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
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"exon_count": 13,
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"gene_symbol": "GUCY1B1",
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"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "XM_017008131.3",
"protein_id": "XP_016863620.1",
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"aa_start": 494,
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"aa_length": 594,
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"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008131.3"
}
],
"gene_symbol": "GUCY1B1",
"gene_hgnc_id": 4687,
"dbsnp": "rs200941293",
"frequency_reference_population": 0.00010952697,
"hom_count_reference_population": 1,
"allele_count_reference_population": 175,
"gnomad_exomes_af": 0.000114123,
"gnomad_genomes_af": 0.0000658042,
"gnomad_exomes_ac": 165,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31091368198394775,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5440000295639038,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.477,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.312,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.160744424006298,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001291951.3",
"gene_symbol": "GUCY1B1",
"hgnc_id": 4687,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val"
}
],
"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
}