← 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: 7-32583881-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=32583881&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 32583881,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015060.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1921A>G",
"hgvs_p": "p.Thr641Ala",
"transcript": "NM_015060.3",
"protein_id": "NP_055875.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 648,
"cds_start": 1921,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318709.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015060.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1921A>G",
"hgvs_p": "p.Thr641Ala",
"transcript": "ENST00000318709.9",
"protein_id": "ENSP00000315568.4",
"transcript_support_level": 2,
"aa_start": 641,
"aa_end": null,
"aa_length": 648,
"cds_start": 1921,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015060.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318709.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1933A>G",
"hgvs_p": "p.Thr645Ala",
"transcript": "ENST00000884406.1",
"protein_id": "ENSP00000554465.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 652,
"cds_start": 1933,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884406.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "ENST00000884413.1",
"protein_id": "ENSP00000554472.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 636,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884413.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1879A>G",
"hgvs_p": "p.Thr627Ala",
"transcript": "ENST00000884414.1",
"protein_id": "ENSP00000554473.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 634,
"cds_start": 1879,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884414.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Thr623Ala",
"transcript": "NM_001410870.1",
"protein_id": "NP_001397799.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 630,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410870.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Thr623Ala",
"transcript": "ENST00000409301.5",
"protein_id": "ENSP00000387011.1",
"transcript_support_level": 5,
"aa_start": 623,
"aa_end": null,
"aa_length": 630,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409301.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Thr617Ala",
"transcript": "ENST00000928171.1",
"protein_id": "ENSP00000598230.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 624,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928171.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1819A>G",
"hgvs_p": "p.Thr607Ala",
"transcript": "ENST00000884412.1",
"protein_id": "ENSP00000554471.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 614,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884412.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1804A>G",
"hgvs_p": "p.Thr602Ala",
"transcript": "ENST00000884407.1",
"protein_id": "ENSP00000554466.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 609,
"cds_start": 1804,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884407.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1786A>G",
"hgvs_p": "p.Thr596Ala",
"transcript": "ENST00000884409.1",
"protein_id": "ENSP00000554468.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 603,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884409.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1726A>G",
"hgvs_p": "p.Thr576Ala",
"transcript": "ENST00000884408.1",
"protein_id": "ENSP00000554467.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 583,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884408.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1714A>G",
"hgvs_p": "p.Thr572Ala",
"transcript": "ENST00000928172.1",
"protein_id": "ENSP00000598231.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 579,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928172.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Thr547Ala",
"transcript": "ENST00000948734.1",
"protein_id": "ENSP00000618793.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 554,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948734.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1627A>G",
"hgvs_p": "p.Thr543Ala",
"transcript": "ENST00000884411.1",
"protein_id": "ENSP00000554470.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 550,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884411.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Thr529Ala",
"transcript": "ENST00000948735.1",
"protein_id": "ENSP00000618794.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 536,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948735.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.799A>G",
"hgvs_p": "p.Thr267Ala",
"transcript": "ENST00000884410.1",
"protein_id": "ENSP00000554469.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 799,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884410.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1933A>G",
"hgvs_p": "p.Thr645Ala",
"transcript": "XM_005249668.3",
"protein_id": "XP_005249725.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 652,
"cds_start": 1933,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249668.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1879A>G",
"hgvs_p": "p.Thr627Ala",
"transcript": "XM_005249669.3",
"protein_id": "XP_005249726.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 634,
"cds_start": 1879,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249669.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Thr547Ala",
"transcript": "XM_005249670.3",
"protein_id": "XP_005249727.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 554,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249670.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1627A>G",
"hgvs_p": "p.Thr543Ala",
"transcript": "XM_017011891.2",
"protein_id": "XP_016867380.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 550,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011891.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Thr529Ala",
"transcript": "XM_047420069.1",
"protein_id": "XP_047276025.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 536,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420069.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1573A>G",
"hgvs_p": "p.Thr525Ala",
"transcript": "XM_047420071.1",
"protein_id": "XP_047276027.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420071.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1542A>G",
"hgvs_p": "p.Ser514Ser",
"transcript": "ENST00000446718.1",
"protein_id": "ENSP00000395134.1",
"transcript_support_level": 5,
"aa_start": 514,
"aa_end": null,
"aa_length": 568,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446718.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1761A>G",
"hgvs_p": "p.Ser587Ser",
"transcript": "XM_011515227.3",
"protein_id": "XP_011513529.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 641,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515227.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "c.1455A>G",
"hgvs_p": "p.Ser485Ser",
"transcript": "XM_047420068.1",
"protein_id": "XP_047276024.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 539,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "n.218A>G",
"hgvs_p": null,
"transcript": "ENST00000467779.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000467779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "n.245A>G",
"hgvs_p": null,
"transcript": "ENST00000470500.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000470500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"hgvs_c": "n.190A>G",
"hgvs_p": null,
"transcript": "ENST00000497020.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000497020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DPY19L1P1",
"gene_hgnc_id": 22395,
"hgvs_c": "n.2136+2096T>C",
"hgvs_p": null,
"transcript": "ENST00000417811.2",
"protein_id": null,
"transcript_support_level": 6,
"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": "transcribed_unprocessed_pseudogene",
"feature": "ENST00000417811.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293957",
"gene_hgnc_id": null,
"hgvs_c": "n.1253-2217T>C",
"hgvs_p": null,
"transcript": "ENST00000720109.1",
"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": "ENST00000720109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293957",
"gene_hgnc_id": null,
"hgvs_c": "n.1480+2096T>C",
"hgvs_p": null,
"transcript": "ENST00000720110.1",
"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": "ENST00000720110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293957",
"gene_hgnc_id": null,
"hgvs_c": "n.723+2096T>C",
"hgvs_p": null,
"transcript": "ENST00000720131.1",
"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": "ENST00000720131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293957",
"gene_hgnc_id": null,
"hgvs_c": "n.624+2096T>C",
"hgvs_p": null,
"transcript": "ENST00000720132.1",
"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": "ENST00000720132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DPY19L1P1",
"gene_hgnc_id": 22395,
"hgvs_c": "n.1435+2096T>C",
"hgvs_p": null,
"transcript": "NR_036680.1",
"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": "NR_036680.1"
}
],
"gene_symbol": "AVL9",
"gene_hgnc_id": 28994,
"dbsnp": "rs1329715787",
"frequency_reference_population": 0.000003718933,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000034215,
"gnomad_genomes_af": 0.00000657808,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03575730323791504,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0589,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.409,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015060.3",
"gene_symbol": "AVL9",
"hgnc_id": 28994,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1921A>G",
"hgvs_p": "p.Thr641Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_036680.1",
"gene_symbol": "DPY19L1P1",
"hgnc_id": 22395,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1435+2096T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000720109.1",
"gene_symbol": "ENSG00000293957",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1253-2217T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}