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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: 14-90875302-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90875302&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90875302,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004755.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1895C>G",
"hgvs_p": "p.Thr632Ser",
"transcript": "NM_004755.4",
"protein_id": "NP_004746.2",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 802,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 26829,
"mane_select": "ENST00000614987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004755.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1895C>G",
"hgvs_p": "p.Thr632Ser",
"transcript": "ENST00000614987.5",
"protein_id": "ENSP00000479667.1",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 802,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 26829,
"mane_select": "NM_004755.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614987.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1928C>G",
"hgvs_p": "p.Thr643Ser",
"transcript": "ENST00000886639.1",
"protein_id": "ENSP00000556698.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 813,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886639.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1874C>G",
"hgvs_p": "p.Thr625Ser",
"transcript": "NM_001322229.2",
"protein_id": "NP_001309158.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 795,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 26808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322229.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1874C>G",
"hgvs_p": "p.Thr625Ser",
"transcript": "ENST00000886636.1",
"protein_id": "ENSP00000556695.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 795,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886636.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1844C>G",
"hgvs_p": "p.Thr615Ser",
"transcript": "ENST00000886637.1",
"protein_id": "ENSP00000556696.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 785,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886637.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1811C>G",
"hgvs_p": "p.Thr604Ser",
"transcript": "NM_001322236.2",
"protein_id": "NP_001309165.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 774,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 26745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322236.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1811C>G",
"hgvs_p": "p.Thr604Ser",
"transcript": "ENST00000946930.1",
"protein_id": "ENSP00000616989.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 774,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946930.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1802C>G",
"hgvs_p": "p.Thr601Ser",
"transcript": "ENST00000946932.1",
"protein_id": "ENSP00000616991.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 771,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946932.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1787C>G",
"hgvs_p": "p.Thr596Ser",
"transcript": "NM_001322228.2",
"protein_id": "NP_001309157.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 766,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 26721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322228.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1787C>G",
"hgvs_p": "p.Thr596Ser",
"transcript": "ENST00000886635.1",
"protein_id": "ENSP00000556694.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 766,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886635.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1733C>G",
"hgvs_p": "p.Thr578Ser",
"transcript": "NM_001322233.2",
"protein_id": "NP_001309162.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 748,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 26667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322233.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1733C>G",
"hgvs_p": "p.Thr578Ser",
"transcript": "ENST00000886638.1",
"protein_id": "ENSP00000556697.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 748,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886638.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Ser",
"transcript": "NM_001322232.2",
"protein_id": "NP_001309161.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 729,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 26610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322232.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Ser",
"transcript": "ENST00000946931.1",
"protein_id": "ENSP00000616990.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 729,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946931.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1658C>G",
"hgvs_p": "p.Thr553Ser",
"transcript": "NM_001322235.2",
"protein_id": "NP_001309164.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 723,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 26969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322235.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1658C>G",
"hgvs_p": "p.Thr553Ser",
"transcript": "NM_001322237.2",
"protein_id": "NP_001309166.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 723,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 26626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322237.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1658C>G",
"hgvs_p": "p.Thr553Ser",
"transcript": "ENST00000536315.6",
"protein_id": "ENSP00000442803.2",
"transcript_support_level": 2,
"aa_start": 553,
"aa_end": null,
"aa_length": 723,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536315.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1604C>G",
"hgvs_p": "p.Thr535Ser",
"transcript": "ENST00000946933.1",
"protein_id": "ENSP00000616992.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 705,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946933.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Thr440Ser",
"transcript": "NM_001322234.2",
"protein_id": "NP_001309163.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 610,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 26866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322234.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Thr413Ser",
"transcript": "NM_001322238.2",
"protein_id": "NP_001309167.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 583,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 26335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322238.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1178C>G",
"hgvs_p": "p.Thr393Ser",
"transcript": "NM_001322231.2",
"protein_id": "NP_001309160.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
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},
{
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],
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},
{
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],
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},
{
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"protein_coding": false,
"strand": false,
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],
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"feature": "ENST00000556178.5"
},
{
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],
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{
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],
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"feature": "ENST00000556178.5"
},
{
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"strand": false,
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"3_prime_UTR_variant"
],
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"gene_symbol": "RPS6KA5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648062.1"
}
],
"gene_symbol": "RPS6KA5",
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"dbsnp": "rs376770842",
"frequency_reference_population": 0.0000061969617,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000478907,
"gnomad_genomes_af": 0.0000197327,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2373383641242981,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.793,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_004755.4",
"gene_symbol": "RPS6KA5",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1895C>G",
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}
],
"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
}