← Back to variant description
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: 17-79941050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79941050&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79941050,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019020.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "NM_019020.4",
"protein_id": "NP_061893.2",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310924.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019020.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "ENST00000310924.7",
"protein_id": "ENSP00000309794.2",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019020.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310924.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000340848.11",
"protein_id": "ENSP00000341517.7",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 405,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340848.11"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Asp330Asn",
"transcript": "ENST00000576768.5",
"protein_id": "ENSP00000461522.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 392,
"cds_start": 988,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576768.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Asp775Asn",
"transcript": "ENST00000926258.1",
"protein_id": "ENSP00000596317.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 837,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926258.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2320G>A",
"hgvs_p": "p.Asp774Asn",
"transcript": "ENST00000926255.1",
"protein_id": "ENSP00000596314.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 836,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926255.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2284G>A",
"hgvs_p": "p.Asp762Asn",
"transcript": "ENST00000926253.1",
"protein_id": "ENSP00000596312.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 824,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926253.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Asp761Asn",
"transcript": "ENST00000968563.1",
"protein_id": "ENSP00000638622.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 823,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968563.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Asp747Asn",
"transcript": "ENST00000926262.1",
"protein_id": "ENSP00000596321.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 809,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926262.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "ENST00000910406.1",
"protein_id": "ENSP00000580465.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910406.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "ENST00000926254.1",
"protein_id": "ENSP00000596313.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926254.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "ENST00000910405.1",
"protein_id": "ENSP00000580464.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 766,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910405.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "ENST00000910407.1",
"protein_id": "ENSP00000580466.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 766,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910407.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "ENST00000926257.1",
"protein_id": "ENSP00000596316.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 766,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926257.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "ENST00000926252.1",
"protein_id": "ENSP00000596311.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 753,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926252.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "ENST00000926260.1",
"protein_id": "ENSP00000596319.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 753,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926260.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "ENST00000926261.1",
"protein_id": "ENSP00000596320.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 753,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926261.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "ENST00000910404.1",
"protein_id": "ENSP00000580463.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 752,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910404.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Asp689Asn",
"transcript": "ENST00000926256.1",
"protein_id": "ENSP00000596315.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 751,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926256.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Asp645Asn",
"transcript": "ENST00000926259.1",
"protein_id": "ENSP00000596318.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 707,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926259.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Asp644Asn",
"transcript": "ENST00000926263.1",
"protein_id": "ENSP00000596322.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 706,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926263.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Asp644Asn",
"transcript": "ENST00000926264.1",
"protein_id": "ENSP00000596323.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 706,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926264.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001271845.2",
"protein_id": "NP_001258774.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 405,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271845.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Asp330Asn",
"transcript": "NM_001271844.2",
"protein_id": "NP_001258773.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 392,
"cds_start": 988,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271844.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2284G>A",
"hgvs_p": "p.Asp762Asn",
"transcript": "XM_024450577.2",
"protein_id": "XP_024306345.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 824,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450577.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2284G>A",
"hgvs_p": "p.Asp762Asn",
"transcript": "XM_024450578.2",
"protein_id": "XP_024306346.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 824,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450578.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Asp761Asn",
"transcript": "XM_024450579.2",
"protein_id": "XP_024306347.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 823,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450579.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2242G>A",
"hgvs_p": "p.Asp748Asn",
"transcript": "XM_024450580.2",
"protein_id": "XP_024306348.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 810,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450580.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "XM_006721694.4",
"protein_id": "XP_006721757.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721694.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "XM_047435342.1",
"protein_id": "XP_047291298.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435342.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "XM_047435343.1",
"protein_id": "XP_047291299.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 766,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435343.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "XM_047435344.1",
"protein_id": "XP_047291300.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 766,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435344.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "XM_047435345.1",
"protein_id": "XP_047291301.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 753,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435345.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "XM_047435346.1",
"protein_id": "XP_047291302.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 752,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435346.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "XM_047435347.1",
"protein_id": "XP_047291303.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 752,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435347.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Asp537Asn",
"transcript": "XM_047435349.1",
"protein_id": "XP_047291305.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 599,
"cds_start": 1609,
"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": "XM_047435349.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1606G>A",
"hgvs_p": "p.Asp536Asn",
"transcript": "XM_047435348.1",
"protein_id": "XP_047291304.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 598,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435348.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Asp481Asn",
"transcript": "XM_017024187.2",
"protein_id": "XP_016879676.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 543,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024187.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Asp462Asn",
"transcript": "XM_047435350.1",
"protein_id": "XP_047291306.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 524,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435350.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Asp461Asn",
"transcript": "XM_047435351.1",
"protein_id": "XP_047291307.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 523,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435351.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Asp459Asn",
"transcript": "XM_047435352.1",
"protein_id": "XP_047291308.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 521,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435352.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Asp458Asn",
"transcript": "XM_047435353.1",
"protein_id": "XP_047291309.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 520,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435353.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Asp448Asn",
"transcript": "XM_047435354.1",
"protein_id": "XP_047291310.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 510,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435354.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "XM_047435356.1",
"protein_id": "XP_047291312.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 509,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435356.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Asp444Asn",
"transcript": "XM_047435357.1",
"protein_id": "XP_047291313.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 506,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435357.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Asp400Asn",
"transcript": "XM_047435358.1",
"protein_id": "XP_047291314.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 462,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435358.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Asp399Asn",
"transcript": "XM_047435359.1",
"protein_id": "XP_047291315.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 461,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435359.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Asp391Asn",
"transcript": "XM_024450582.2",
"protein_id": "XP_024306350.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 453,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450582.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01978",
"gene_hgnc_id": 52806,
"hgvs_c": "n.369+589C>T",
"hgvs_p": null,
"transcript": "ENST00000771062.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000771062.1"
}
],
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"dbsnp": "rs778148705",
"frequency_reference_population": 0.000013792247,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000137922,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2742007076740265,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.127,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.258,
"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": -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_019020.4",
"gene_symbol": "TBC1D16",
"hgnc_id": 28356,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000771062.1",
"gene_symbol": "LINC01978",
"hgnc_id": 52806,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.369+589C>T",
"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
}