← 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: 2-164694817-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164694817&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164694817,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001278458.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "NM_001365672.2",
"protein_id": "NP_001352601.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652658.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365672.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "ENST00000652658.2",
"protein_id": "ENSP00000498242.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365672.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652658.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2713A>G",
"hgvs_p": "p.Asn905Asp",
"transcript": "ENST00000409184.8",
"protein_id": "ENSP00000387326.5",
"transcript_support_level": 1,
"aa_start": 905,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409184.8"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Asn897Asp",
"transcript": "ENST00000342193.8",
"protein_id": "ENSP00000341360.4",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342193.8"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "ENST00000375458.6",
"protein_id": "ENSP00000364607.2",
"transcript_support_level": 1,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375458.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "n.3484A>G",
"hgvs_p": null,
"transcript": "ENST00000489955.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "n.4399A>G",
"hgvs_p": null,
"transcript": "ENST00000493868.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493868.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2890A>G",
"hgvs_p": "p.Asn964Asp",
"transcript": "NM_001278458.2",
"protein_id": "NP_001265387.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278458.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2890A>G",
"hgvs_p": "p.Asn964Asp",
"transcript": "ENST00000629362.2",
"protein_id": "ENSP00000487041.2",
"transcript_support_level": 2,
"aa_start": 964,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629362.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2731A>G",
"hgvs_p": "p.Asn911Asp",
"transcript": "ENST00000861285.1",
"protein_id": "ENSP00000531344.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861285.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2731A>G",
"hgvs_p": "p.Asn911Asp",
"transcript": "ENST00000946165.1",
"protein_id": "ENSP00000616224.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946165.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2713A>G",
"hgvs_p": "p.Asn905Asp",
"transcript": "NM_001278460.2",
"protein_id": "NP_001265389.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2713,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278460.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2710A>G",
"hgvs_p": "p.Asn904Asp",
"transcript": "NM_001365670.2",
"protein_id": "NP_001352599.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365670.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Asn898Asp",
"transcript": "ENST00000861281.1",
"protein_id": "ENSP00000531340.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861281.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Asn898Asp",
"transcript": "ENST00000861283.1",
"protein_id": "ENSP00000531342.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861283.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Asn898Asp",
"transcript": "ENST00000861287.1",
"protein_id": "ENSP00000531346.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861287.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Asn897Asp",
"transcript": "NM_014900.5",
"protein_id": "NP_055715.3",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014900.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2752A>G",
"hgvs_p": "p.Asn918Asp",
"transcript": "NM_001365671.1",
"protein_id": "NP_001352600.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365671.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "NM_001365674.2",
"protein_id": "NP_001352603.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365674.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "NM_001365675.2",
"protein_id": "NP_001352604.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365675.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "ENST00000861277.1",
"protein_id": "ENSP00000531336.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861277.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "ENST00000861280.1",
"protein_id": "ENSP00000531339.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861280.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "ENST00000861282.1",
"protein_id": "ENSP00000531341.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861282.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "ENST00000861288.1",
"protein_id": "ENSP00000531347.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861288.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Asn872Asp",
"transcript": "ENST00000926847.1",
"protein_id": "ENSP00000596906.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926847.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2611A>G",
"hgvs_p": "p.Asn871Asp",
"transcript": "ENST00000861279.1",
"protein_id": "ENSP00000531338.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861279.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "NM_001278461.2",
"protein_id": "NP_001265390.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278461.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "NM_001365673.2",
"protein_id": "NP_001352602.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365673.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "ENST00000861284.1",
"protein_id": "ENSP00000531343.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861284.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "ENST00000926848.1",
"protein_id": "ENSP00000596907.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926848.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Asn859Asp",
"transcript": "ENST00000946163.1",
"protein_id": "ENSP00000616222.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946163.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2572A>G",
"hgvs_p": "p.Asn858Asp",
"transcript": "ENST00000861276.1",
"protein_id": "ENSP00000531335.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861276.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2572A>G",
"hgvs_p": "p.Asn858Asp",
"transcript": "ENST00000861278.1",
"protein_id": "ENSP00000531337.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861278.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2572A>G",
"hgvs_p": "p.Asn858Asp",
"transcript": "ENST00000926850.1",
"protein_id": "ENSP00000596909.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926850.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Asn809Asp",
"transcript": "ENST00000861286.1",
"protein_id": "ENSP00000531345.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861286.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2416A>G",
"hgvs_p": "p.Asn806Asp",
"transcript": "ENST00000946162.1",
"protein_id": "ENSP00000616221.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2416,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946162.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2386A>G",
"hgvs_p": "p.Asn796Asp",
"transcript": "ENST00000926849.1",
"protein_id": "ENSP00000596908.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926849.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "c.2338A>G",
"hgvs_p": "p.Asn780Asp",
"transcript": "ENST00000946164.1",
"protein_id": "ENSP00000616223.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"hgvs_c": "n.-80A>G",
"hgvs_p": null,
"transcript": "ENST00000493713.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000493713.1"
}
],
"gene_symbol": "COBLL1",
"gene_hgnc_id": 23571,
"dbsnp": "rs141706142",
"frequency_reference_population": 0.0000027365695,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273657,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1615084707736969,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.1278,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.244,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278458.2",
"gene_symbol": "COBLL1",
"hgnc_id": 23571,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2890A>G",
"hgvs_p": "p.Asn964Asp"
}
],
"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
}