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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90875302&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90875302,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004755.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr632Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004755.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr632Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004755.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614987.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr643Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886639.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr625Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322229.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr625Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886636.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr615Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886637.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr604Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322236.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr604Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946930.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr601Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946932.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr596Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322228.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr596Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886635.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr578Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322233.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr578Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886638.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr559Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322232.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr559Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946931.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr553Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322235.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr553Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322237.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr553Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536315.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr535Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946933.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr440Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322234.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr413Ile",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322238.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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>T",
"hgvs_p": "p.Thr393Ile",
"transcript": "NM_001322231.2",
"protein_id": "NP_001309160.1",
"transcript_support_level": null,
"aa_start": 393,
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"aa_length": 563,
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}