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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: 6-166432418-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166432418&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166432418,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318936.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1405A>G",
"hgvs_p": "p.Ile469Val",
"transcript": "NM_021135.6",
"protein_id": "NP_066958.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 733,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5832,
"mane_select": "ENST00000265678.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021135.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1405A>G",
"hgvs_p": "p.Ile469Val",
"transcript": "ENST00000265678.9",
"protein_id": "ENSP00000265678.4",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 733,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5832,
"mane_select": "NM_021135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265678.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "ENST00000481261.6",
"protein_id": "ENSP00000422484.1",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 644,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481261.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "NM_001318936.2",
"protein_id": "NP_001305865.2",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 758,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 6030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318936.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "ENST00000510118.5",
"protein_id": "ENSP00000422435.1",
"transcript_support_level": 2,
"aa_start": 494,
"aa_end": null,
"aa_length": 758,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510118.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "ENST00000967274.1",
"protein_id": "ENSP00000637333.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 758,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967274.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1429A>G",
"hgvs_p": "p.Ile477Val",
"transcript": "NM_001006932.3",
"protein_id": "NP_001006933.3",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 741,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006932.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1429A>G",
"hgvs_p": "p.Ile477Val",
"transcript": "ENST00000503859.5",
"protein_id": "ENSP00000427015.1",
"transcript_support_level": 2,
"aa_start": 477,
"aa_end": null,
"aa_length": 741,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503859.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ile458Val",
"transcript": "ENST00000907318.1",
"protein_id": "ENSP00000577377.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 722,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907318.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ile453Val",
"transcript": "ENST00000714395.1",
"protein_id": "ENSP00000519662.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 717,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714395.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1285A>G",
"hgvs_p": "p.Ile429Val",
"transcript": "ENST00000907314.1",
"protein_id": "ENSP00000577373.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 693,
"cds_start": 1285,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907314.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1405A>G",
"hgvs_p": "p.Ile469Val",
"transcript": "ENST00000935351.1",
"protein_id": "ENSP00000605410.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 679,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935351.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1405A>G",
"hgvs_p": "p.Ile469Val",
"transcript": "ENST00000907313.1",
"protein_id": "ENSP00000577372.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 668,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907313.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "NM_001318938.1",
"protein_id": "NP_001305867.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 644,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318938.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "ENST00000405189.7",
"protein_id": "ENSP00000386050.3",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 644,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405189.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Ile371Val",
"transcript": "NM_001318937.2",
"protein_id": "NP_001305866.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 635,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318937.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Ile497Val",
"transcript": "XM_006715549.4",
"protein_id": "XP_006715612.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 761,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715549.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1399A>G",
"hgvs_p": "p.Ile467Val",
"transcript": "XM_047419233.1",
"protein_id": "XP_047275189.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 731,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419233.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ile453Val",
"transcript": "XM_047419234.1",
"protein_id": "XP_047275190.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 717,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419234.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "XM_047419235.1",
"protein_id": "XP_047275191.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 644,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1333-1807A>G",
"hgvs_p": null,
"transcript": "ENST00000907315.1",
"protein_id": "ENSP00000577374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907315.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1216-1807A>G",
"hgvs_p": null,
"transcript": "ENST00000907317.1",
"protein_id": "ENSP00000577376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907317.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1333-9001A>G",
"hgvs_p": null,
"transcript": "ENST00000907316.1",
"protein_id": "ENSP00000577375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907316.1"
}
],
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"dbsnp": "rs75225867",
"frequency_reference_population": 0.00017982756,
"hom_count_reference_population": 0,
"allele_count_reference_population": 290,
"gnomad_exomes_af": 0.000184889,
"gnomad_genomes_af": 0.000131304,
"gnomad_exomes_ac": 270,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20108789205551147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1033,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.594,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001318936.2",
"gene_symbol": "RPS6KA2",
"hgnc_id": 10431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val"
}
],
"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
}