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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: 22-41989680-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41989680&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41989680,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363845.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Gln720Arg",
"transcript": "NM_001363845.2",
"protein_id": "NP_001350774.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 856,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000644076.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363845.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Gln720Arg",
"transcript": "ENST00000644076.2",
"protein_id": "ENSP00000494051.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 856,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_001363845.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644076.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Gln222Arg",
"transcript": "ENST00000396426.7",
"protein_id": "ENSP00000379704.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 358,
"cds_start": 665,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396426.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Gln222Arg",
"transcript": "ENST00000396425.8",
"protein_id": "ENSP00000379703.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 350,
"cds_start": 665,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396425.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "n.*131+71A>G",
"hgvs_p": null,
"transcript": "ENST00000396417.2",
"protein_id": "ENSP00000379695.2",
"transcript_support_level": 1,
"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": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000396417.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Gln720Arg",
"transcript": "NM_001389668.1",
"protein_id": "NP_001376597.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 848,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 6266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389668.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2030A>G",
"hgvs_p": "p.Gln677Arg",
"transcript": "NM_001389669.1",
"protein_id": "NP_001376598.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 813,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389669.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Gln656Arg",
"transcript": "NM_001389670.1",
"protein_id": "NP_001376599.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 792,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389670.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Gln656Arg",
"transcript": "NM_001389671.1",
"protein_id": "NP_001376600.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 784,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389671.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"transcript": "NM_001389672.1",
"protein_id": "NP_001376601.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 749,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389672.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"transcript": "NM_001389673.1",
"protein_id": "NP_001376602.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 741,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389673.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Gln222Arg",
"transcript": "NM_145733.3",
"protein_id": "NP_663786.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 358,
"cds_start": 665,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145733.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.Gln222Arg",
"transcript": "NM_019106.6",
"protein_id": "NP_061979.3",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 350,
"cds_start": 665,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019106.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Gln209Arg",
"transcript": "NM_001389674.1",
"protein_id": "NP_001376603.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 345,
"cds_start": 626,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389674.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Gln209Arg",
"transcript": "NM_001389675.1",
"protein_id": "NP_001376604.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 337,
"cds_start": 626,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389675.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.536A>G",
"hgvs_p": "p.Gln179Arg",
"transcript": "NM_001389676.1",
"protein_id": "NP_001376605.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 315,
"cds_start": 536,
"cds_end": null,
"cds_length": 948,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389676.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.536A>G",
"hgvs_p": "p.Gln179Arg",
"transcript": "NM_001389677.1",
"protein_id": "NP_001376606.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 307,
"cds_start": 536,
"cds_end": null,
"cds_length": 924,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389677.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Gln166Arg",
"transcript": "NM_001389678.1",
"protein_id": "NP_001376607.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 294,
"cds_start": 497,
"cds_end": null,
"cds_length": 885,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389678.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Gln158Arg",
"transcript": "ENST00000406029.5",
"protein_id": "ENSP00000383956.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 294,
"cds_start": 473,
"cds_end": null,
"cds_length": 885,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406029.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Gln158Arg",
"transcript": "NM_001389679.1",
"protein_id": "NP_001376608.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301540",
"gene_hgnc_id": null,
"hgvs_c": "n.292-319T>C",
"hgvs_p": null,
"transcript": "ENST00000779595.1",
"protein_id": null,
"transcript_support_level": null,
"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": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000779595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301540",
"gene_hgnc_id": null,
"hgvs_c": "n.297-319T>C",
"hgvs_p": null,
"transcript": "ENST00000779596.1",
"protein_id": null,
"transcript_support_level": null,
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000779596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301540",
"gene_hgnc_id": null,
"hgvs_c": "n.294-13T>C",
"hgvs_p": null,
"transcript": "ENST00000779597.1",
"protein_id": null,
"transcript_support_level": null,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000779597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301540",
"gene_hgnc_id": null,
"hgvs_c": "n.282-26T>C",
"hgvs_p": null,
"transcript": "ENST00000779598.1",
"protein_id": null,
"transcript_support_level": null,
"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": 772,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000779598.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301540",
"gene_hgnc_id": null,
"hgvs_c": "n.81-13T>C",
"hgvs_p": null,
"transcript": "ENST00000779599.1",
"protein_id": null,
"transcript_support_level": null,
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000779599.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.*91A>G",
"hgvs_p": null,
"transcript": "ENST00000449288.5",
"protein_id": "ENSP00000391416.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449288.5"
}
],
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"dbsnp": "rs2078271459",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5180761218070984,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.1157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.29,
"phylop100way_prediction": "Pathogenic",
"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": 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_001363845.2",
"gene_symbol": "SEPTIN3",
"hgnc_id": 10750,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Gln720Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000779595.1",
"gene_symbol": "ENSG00000301540",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.292-319T>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
}