← 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: 1-100874231-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100874231&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100874231,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001261441.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "NM_001033025.3",
"protein_id": "NP_001028197.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": "ENST00000370114.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033025.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000370114.8",
"protein_id": "ENSP00000359132.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": "NM_001033025.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370114.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000370113.7",
"protein_id": "ENSP00000359131.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370113.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "NM_001261441.2",
"protein_id": "NP_001248370.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 338,
"cds_start": 728,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261441.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000886545.1",
"protein_id": "ENSP00000556603.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 338,
"cds_start": 728,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886545.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "NM_001439.4",
"protein_id": "NP_001430.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000886539.1",
"protein_id": "ENSP00000556598.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886539.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000886540.1",
"protein_id": "ENSP00000556599.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886540.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000886541.1",
"protein_id": "ENSP00000556600.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886541.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000886546.1",
"protein_id": "ENSP00000556604.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886546.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000886547.1",
"protein_id": "ENSP00000556605.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886547.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000939947.1",
"protein_id": "ENSP00000610006.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939947.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "ENST00000939949.1",
"protein_id": "ENSP00000610008.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939949.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001261440.2",
"protein_id": "NP_001248369.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261440.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000886538.1",
"protein_id": "ENSP00000556597.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886538.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000886542.1",
"protein_id": "ENSP00000556601.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886542.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000886544.1",
"protein_id": "ENSP00000556602.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886544.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000939948.1",
"protein_id": "ENSP00000610007.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939948.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000450240.2",
"protein_id": "ENSP00000403363.1",
"transcript_support_level": 4,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 799,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450240.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "XM_011540995.3",
"protein_id": "XP_011539297.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 338,
"cds_start": 728,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540995.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "XM_047449405.1",
"protein_id": "XP_047305361.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 338,
"cds_start": 728,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449405.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "XM_047449406.1",
"protein_id": "XP_047305362.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 338,
"cds_start": 728,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449406.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "XM_011540996.3",
"protein_id": "XP_011539298.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 337,
"cds_start": 725,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540996.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "XM_005270621.2",
"protein_id": "XP_005270678.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270621.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "XM_047449407.1",
"protein_id": "XP_047305363.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449407.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"transcript": "XM_047449408.1",
"protein_id": "XP_047305364.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 330,
"cds_start": 704,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449408.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "XM_017000651.3",
"protein_id": "XP_016856140.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000651.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "XM_047449409.1",
"protein_id": "XP_047305365.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449409.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "XM_047449410.1",
"protein_id": "XP_047305366.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 329,
"cds_start": 701,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1035,
"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": true,
"strand": false,
"consequences": [
"3_prime_UTR_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.*189C>T",
"hgvs_p": null,
"transcript": "NM_001261442.2",
"protein_id": "NP_001248371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261442.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_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.*189C>T",
"hgvs_p": null,
"transcript": "ENST00000535414.5",
"protein_id": "ENSP00000444385.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535414.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "n.1453C>T",
"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": "rs147366080",
"frequency_reference_population": 0.00039248852,
"hom_count_reference_population": 1,
"allele_count_reference_population": 633,
"gnomad_exomes_af": 0.000403231,
"gnomad_genomes_af": 0.000289314,
"gnomad_exomes_ac": 589,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.034500956535339355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.057,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001261441.2",
"gene_symbol": "EXTL2",
"hgnc_id": 3516,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val"
}
],
"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
}