← 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: 1-100877641-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100877641&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100877641,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001261441.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "NM_001033025.3",
"protein_id": "NP_001028197.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": "ENST00000370114.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033025.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000370114.8",
"protein_id": "ENSP00000359132.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": "NM_001033025.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370114.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000370113.7",
"protein_id": "ENSP00000359131.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370113.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "NM_001261441.2",
"protein_id": "NP_001248370.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 338,
"cds_start": 292,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261441.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "ENST00000886545.1",
"protein_id": "ENSP00000556603.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 338,
"cds_start": 292,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886545.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "NM_001439.4",
"protein_id": "NP_001430.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886539.1",
"protein_id": "ENSP00000556598.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886539.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886540.1",
"protein_id": "ENSP00000556599.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886540.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886541.1",
"protein_id": "ENSP00000556600.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886541.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886546.1",
"protein_id": "ENSP00000556604.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886546.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886547.1",
"protein_id": "ENSP00000556605.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886547.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000939947.1",
"protein_id": "ENSP00000610006.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939947.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000939949.1",
"protein_id": "ENSP00000610008.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939949.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "NM_001261440.2",
"protein_id": "NP_001248369.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261440.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886538.1",
"protein_id": "ENSP00000556597.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886538.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886542.1",
"protein_id": "ENSP00000556601.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886542.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000886544.1",
"protein_id": "ENSP00000556602.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886544.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000939948.1",
"protein_id": "ENSP00000610007.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939948.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "ENST00000450240.2",
"protein_id": "ENSP00000403363.1",
"transcript_support_level": 4,
"aa_start": 98,
"aa_end": null,
"aa_length": 265,
"cds_start": 292,
"cds_end": null,
"cds_length": 799,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450240.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "NM_001261442.2",
"protein_id": "NP_001248371.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 147,
"cds_start": 268,
"cds_end": null,
"cds_length": 444,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261442.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "ENST00000535414.5",
"protein_id": "ENSP00000444385.2",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 147,
"cds_start": 268,
"cds_end": null,
"cds_length": 444,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535414.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000416479.1",
"protein_id": "ENSP00000392255.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 116,
"cds_start": 229,
"cds_end": null,
"cds_length": 351,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416479.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "XM_011540995.3",
"protein_id": "XP_011539297.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 338,
"cds_start": 292,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540995.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "XM_047449405.1",
"protein_id": "XP_047305361.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 338,
"cds_start": 292,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449405.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "XM_047449406.1",
"protein_id": "XP_047305362.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 338,
"cds_start": 292,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449406.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala",
"transcript": "XM_011540996.3",
"protein_id": "XP_011539298.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 337,
"cds_start": 292,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540996.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "XM_005270621.2",
"protein_id": "XP_005270678.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270621.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "XM_047449407.1",
"protein_id": "XP_047305363.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449407.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "XM_047449408.1",
"protein_id": "XP_047305364.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 330,
"cds_start": 268,
"cds_end": null,
"cds_length": 993,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449408.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "XM_017000651.3",
"protein_id": "XP_016856140.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000651.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "XM_047449409.1",
"protein_id": "XP_047305365.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449409.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Pro90Ala",
"transcript": "XM_047449410.1",
"protein_id": "XP_047305366.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 329,
"cds_start": 268,
"cds_end": null,
"cds_length": 990,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "n.1017C>G",
"hgvs_p": null,
"transcript": "NR_048570.1",
"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": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048570.1"
}
],
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"dbsnp": "rs753971587",
"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": 0.9384422302246094,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.649,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1711,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.516,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001261441.2",
"gene_symbol": "EXTL2",
"hgnc_id": 3516,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Pro98Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}