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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: 7-35873749-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=35873749&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 35873749,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001788.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe",
"transcript": "NM_001788.6",
"protein_id": "NP_001779.3",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 437,
"cds_start": 486,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "ENST00000350320.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe",
"transcript": "ENST00000350320.11",
"protein_id": "ENSP00000344868.8",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 437,
"cds_start": 486,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "NM_001788.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.327A>T",
"hgvs_p": "p.Leu109Phe",
"transcript": "ENST00000635047.1",
"protein_id": "ENSP00000489480.1",
"transcript_support_level": 4,
"aa_start": 109,
"aa_end": null,
"aa_length": 156,
"cds_start": 327,
"cds_end": null,
"cds_length": 471,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.*403A>T",
"hgvs_p": null,
"transcript": "ENST00000635175.1",
"protein_id": "ENSP00000489192.1",
"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": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.*403A>T",
"hgvs_p": null,
"transcript": "ENST00000635175.1",
"protein_id": "ENSP00000489192.1",
"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": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.483A>T",
"hgvs_p": "p.Leu161Phe",
"transcript": "NM_001011553.4",
"protein_id": "NP_001011553.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 436,
"cds_start": 483,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.483A>T",
"hgvs_p": "p.Leu161Phe",
"transcript": "ENST00000705486.1",
"protein_id": "ENSP00000516132.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 436,
"cds_start": 483,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.426A>T",
"hgvs_p": "p.Leu142Phe",
"transcript": "ENST00000399035.7",
"protein_id": "ENSP00000381993.4",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 417,
"cds_start": 426,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.378A>T",
"hgvs_p": "p.Leu126Phe",
"transcript": "NM_001242956.1",
"protein_id": "NP_001229885.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 401,
"cds_start": 378,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.378A>T",
"hgvs_p": "p.Leu126Phe",
"transcript": "ENST00000435235.6",
"protein_id": "ENSP00000413507.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 401,
"cds_start": 378,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.327A>T",
"hgvs_p": "p.Leu109Phe",
"transcript": "NM_001363715.2",
"protein_id": "NP_001350644.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 384,
"cds_start": 327,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.327A>T",
"hgvs_p": "p.Leu109Phe",
"transcript": "NM_001375299.1",
"protein_id": "NP_001362228.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 384,
"cds_start": 327,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.327A>T",
"hgvs_p": "p.Leu109Phe",
"transcript": "ENST00000399034.7",
"protein_id": "ENSP00000381992.4",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 384,
"cds_start": 327,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe",
"transcript": "ENST00000672279.1",
"protein_id": "ENSP00000499937.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 174,
"cds_start": 486,
"cds_end": null,
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"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.327A>T",
"hgvs_p": "p.Leu109Phe",
"transcript": "ENST00000634600.1",
"protein_id": "ENSP00000489538.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 146,
"cds_start": 327,
"cds_end": null,
"cds_length": 441,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe",
"transcript": "XM_011515656.3",
"protein_id": "XP_011513958.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 460,
"cds_start": 486,
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"cdna_start": 639,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe",
"transcript": "XM_006715806.4",
"protein_id": "XP_006715869.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 448,
"cds_start": 486,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe",
"transcript": "XM_011515661.3",
"protein_id": "XP_011513963.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 440,
"cds_start": 486,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.483A>T",
"hgvs_p": "p.Leu161Phe",
"transcript": "XM_047421095.1",
"protein_id": "XP_047277051.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 436,
"cds_start": 483,
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"cdna_start": 636,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Leu132Phe",
"transcript": "XM_047421096.1",
"protein_id": "XP_047277052.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 407,
"cds_start": 396,
"cds_end": null,
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"cdna_start": 412,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.327A>T",
"hgvs_p": "p.Leu109Phe",
"transcript": "XM_047421097.1",
"protein_id": "XP_047277053.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 395,
"cds_start": 327,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4312,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.420A>T",
"hgvs_p": null,
"transcript": "ENST00000425198.1",
"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": 6952,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.1338A>T",
"hgvs_p": null,
"transcript": "ENST00000473201.2",
"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,
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"cdna_length": 7065,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
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"hgvs_c": "n.465A>T",
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"transcript": "ENST00000475109.5",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 733,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.520A>T",
"hgvs_p": null,
"transcript": "ENST00000634591.1",
"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": 740,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.505A>T",
"hgvs_p": null,
"transcript": "ENST00000635420.1",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"dbsnp": "rs755357863",
"frequency_reference_population": 0.00005588174,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000589678,
"gnomad_genomes_af": 0.000026295,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6783596873283386,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.562,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.399,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001788.6",
"gene_symbol": "SEPTIN7",
"hgnc_id": 1717,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.486A>T",
"hgvs_p": "p.Leu162Phe"
}
],
"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
}