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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: 6-166565558-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166565558&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166565558,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001318936.2",
"consequences": [
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"hgvs_p": null,
"transcript": "NM_021135.6",
"protein_id": "NP_066958.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265678.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021135.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000265678.9",
"protein_id": "ENSP00000265678.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265678.9"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.175-26774A>T",
"hgvs_p": null,
"transcript": "NM_001318936.2",
"protein_id": "NP_001305865.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318936.2"
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.175-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000510118.5",
"protein_id": "ENSP00000422435.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510118.5"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000967274.1",
"protein_id": "ENSP00000637333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967274.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.124-26774A>T",
"hgvs_p": null,
"transcript": "NM_001006932.3",
"protein_id": "NP_001006933.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": null,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006932.3"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.124-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000503859.5",
"protein_id": "ENSP00000427015.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": null,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503859.5"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000907318.1",
"protein_id": "ENSP00000577377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907318.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.52-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000714395.1",
"protein_id": "ENSP00000519662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": null,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714395.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"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": null,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-34245A>T",
"hgvs_p": null,
"transcript": "ENST00000907314.1",
"protein_id": "ENSP00000577373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
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"cds_length": 2082,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000907314.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000935351.1",
"protein_id": "ENSP00000605410.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935351.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000907313.1",
"protein_id": "ENSP00000577372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907313.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-34245A>T",
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"transcript": "ENST00000907317.1",
"protein_id": "ENSP00000577376.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000907317.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.100-26774A>T",
"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,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907316.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.38-55234A>T",
"hgvs_p": null,
"transcript": "NM_001318937.2",
"protein_id": "NP_001305866.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318937.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.175-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000506565.1",
"protein_id": "ENSP00000425148.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 170,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000506565.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.52-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000507371.5",
"protein_id": "ENSP00000423114.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.-168-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000507350.5",
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"biotype": "protein_coding",
"feature": "ENST00000507350.5"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.-168-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000512860.5",
"protein_id": "ENSP00000427605.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.-168-26774A>T",
"hgvs_p": null,
"transcript": "ENST00000511034.1",
"protein_id": "ENSP00000425458.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 35,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511034.1"
},
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.184-26774A>T",
"hgvs_p": null,
"transcript": "XM_006715549.4",
"protein_id": "XP_006715612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": null,
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"cds_length": 2286,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715549.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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{
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{
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],
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"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.92,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}