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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: 6-24588656-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24588656&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24588656,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000378214.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_014809.4",
"protein_id": "NP_055624.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1072,
"cds_start": 931,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": "ENST00000378214.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "ENST00000378214.8",
"protein_id": "ENSP00000367459.3",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1072,
"cds_start": 931,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": "NM_014809.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "ENST00000537886.5",
"protein_id": "ENSP00000439700.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1011,
"cds_start": 931,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 6622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_001168375.2",
"protein_id": "NP_001161847.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1072,
"cds_start": 931,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_001350403.2",
"protein_id": "NP_001337332.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1072,
"cds_start": 931,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Ala305Thr",
"transcript": "NM_001350404.2",
"protein_id": "NP_001337333.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1066,
"cds_start": 913,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "NM_001168374.2",
"protein_id": "NP_001161846.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1063,
"cds_start": 904,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "ENST00000535378.5",
"protein_id": "ENSP00000442403.1",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 1063,
"cds_start": 904,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_001350405.2",
"protein_id": "NP_001337334.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1039,
"cds_start": 931,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "NM_001168376.2",
"protein_id": "NP_001161848.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1027,
"cds_start": 796,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "NM_001350406.2",
"protein_id": "NP_001337335.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1027,
"cds_start": 796,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Ala266Thr",
"transcript": "ENST00000430948.6",
"protein_id": "ENSP00000401086.2",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 1027,
"cds_start": 796,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 6620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_001168377.2",
"protein_id": "NP_001161849.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1011,
"cds_start": 931,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_001350407.2",
"protein_id": "NP_001337336.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 978,
"cds_start": 931,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "NM_001350408.2",
"protein_id": "NP_001337337.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 978,
"cds_start": 931,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "NM_001350409.2",
"protein_id": "NP_001337338.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 920,
"cds_start": 475,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "NM_001350410.2",
"protein_id": "NP_001337339.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 920,
"cds_start": 475,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 6642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "XM_017011541.2",
"protein_id": "XP_016867030.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1063,
"cds_start": 904,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "XM_047419602.1",
"protein_id": "XP_047275558.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1047,
"cds_start": 931,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "XM_017011544.2",
"protein_id": "XP_016867033.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1039,
"cds_start": 931,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "XM_047419603.1",
"protein_id": "XP_047275559.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1039,
"cds_start": 931,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 6440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "XM_017011546.3",
"protein_id": "XP_016867035.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 986,
"cds_start": 931,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
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"hgvs_p": "p.Ala311Thr",
"transcript": "XM_017011550.2",
"protein_id": "XP_016867039.1",
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"aa_start": 311,
"aa_end": null,
"aa_length": 978,
"cds_start": 931,
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"cdna_start": 1601,
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"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "XM_047419604.1",
"protein_id": "XP_047275560.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 937,
"cds_start": 931,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"dbsnp": "rs4504469",
"frequency_reference_population": 0.37512308,
"hom_count_reference_population": 121819,
"allele_count_reference_population": 604952,
"gnomad_exomes_af": 0.383455,
"gnomad_genomes_af": 0.294944,
"gnomad_exomes_ac": 560176,
"gnomad_genomes_ac": 44776,
"gnomad_exomes_homalt": 113405,
"gnomad_genomes_homalt": 8414,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00007960599032230675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.0593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.512,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000378214.8",
"gene_symbol": "KIAA0319",
"hgnc_id": 21580,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr"
}
],
"clinvar_disease": "KIAA0319-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "KIAA0319-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}