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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: 6-111661835-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111661835&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111661835,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000354650.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "NM_002037.5",
"protein_id": "NP_002028.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "ENST00000354650.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000354650.7",
"protein_id": "ENSP00000346671.3",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "NM_002037.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "ENST00000229471.8",
"protein_id": "ENSP00000229471.4",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "NM_001370529.1",
"protein_id": "NP_001357458.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "ENST00000368667.6",
"protein_id": "ENSP00000357656.2",
"transcript_support_level": 5,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "NM_153047.4",
"protein_id": "NP_694592.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000368678.8",
"protein_id": "ENSP00000357667.4",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "ENST00000368682.8",
"protein_id": "ENSP00000357671.3",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Asp451Glu",
"transcript": "NM_153048.4",
"protein_id": "NP_694593.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 482,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010650.2",
"protein_id": "XP_016866139.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010651.2",
"protein_id": "XP_016866140.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010652.2",
"protein_id": "XP_016866141.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_017010653.2",
"protein_id": "XP_016866142.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418561.1",
"protein_id": "XP_047274517.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
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"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418562.1",
"protein_id": "XP_047274518.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418563.1",
"protein_id": "XP_047274519.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
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"cdna_start": 3755,
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"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418565.1",
"protein_id": "XP_047274521.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 4939,
"cdna_end": null,
"cdna_length": 6442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418566.1",
"protein_id": "XP_047274522.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 7052,
"cdna_end": null,
"cdna_length": 8555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_047418567.1",
"protein_id": "XP_047274523.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1518,
"cds_end": null,
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"cdna_start": 11111,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418568.1",
"protein_id": "XP_047274524.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418569.1",
"protein_id": "XP_047274525.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418570.1",
"protein_id": "XP_047274526.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 534,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Asp503Glu",
"transcript": "XM_047418571.1",
"protein_id": "XP_047274527.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "D",
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 13,
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},
{
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"protein_coding": true,
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],
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"exon_count": 12,
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},
{
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"missense_variant"
],
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"gene_symbol": "FYN",
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"hgvs_p": "p.Asp411Glu",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FYN",
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"transcript": "ENST00000467921.6",
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},
{
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"protein_coding": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FYN",
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"hgvs_c": "n.371C>G",
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"transcript": "ENST00000491885.6",
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}
],
"gene_symbol": "FYN",
"gene_hgnc_id": 4037,
"dbsnp": "rs28763975",
"frequency_reference_population": 0.013498595,
"hom_count_reference_population": 172,
"allele_count_reference_population": 21789,
"gnomad_exomes_af": 0.0139486,
"gnomad_genomes_af": 0.00917925,
"gnomad_exomes_ac": 20391,
"gnomad_genomes_ac": 1398,
"gnomad_exomes_homalt": 166,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008390069007873535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.781,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000354650.7",
"gene_symbol": "FYN",
"hgnc_id": 4037,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Asp506Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}