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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: 1-1707458-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1707458&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1707458,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001313896.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Leu399Ser",
"transcript": "NM_024011.4",
"protein_id": "NP_076916.2",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 780,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404249.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024011.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Leu399Ser",
"transcript": "ENST00000404249.8",
"protein_id": "ENSP00000384442.3",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 780,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024011.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404249.8"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1205T>C",
"hgvs_p": "p.Leu402Ser",
"transcript": "ENST00000378633.5",
"protein_id": "ENSP00000367900.1",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 783,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378633.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Leu398Ser",
"transcript": "ENST00000357760.6",
"protein_id": "ENSP00000350403.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 779,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357760.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Leu389Ser",
"transcript": "ENST00000358779.9",
"protein_id": "ENSP00000351629.5",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 770,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358779.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "n.1026T>C",
"hgvs_p": null,
"transcript": "ENST00000356937.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000356937.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "n.1129+67T>C",
"hgvs_p": null,
"transcript": "ENST00000460465.5",
"protein_id": "ENSP00000462289.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460465.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1289T>C",
"hgvs_p": "p.Leu430Ser",
"transcript": "ENST00000893739.1",
"protein_id": "ENSP00000563798.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 811,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893739.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Leu412Ser",
"transcript": "ENST00000893735.1",
"protein_id": "ENSP00000563794.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 793,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893735.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1211T>C",
"hgvs_p": "p.Leu404Ser",
"transcript": "ENST00000893738.1",
"protein_id": "ENSP00000563797.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 785,
"cds_start": 1211,
"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": "ENST00000893738.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1205T>C",
"hgvs_p": "p.Leu402Ser",
"transcript": "NM_001313896.2",
"protein_id": "NP_001300825.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 783,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313896.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Leu398Ser",
"transcript": "NM_001313982.2",
"protein_id": "NP_001300911.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 779,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313982.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1181T>C",
"hgvs_p": "p.Leu394Ser",
"transcript": "ENST00000893737.1",
"protein_id": "ENSP00000563796.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 775,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893737.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Leu389Ser",
"transcript": "NM_033529.4",
"protein_id": "NP_277071.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 770,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033529.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Leu387Ser",
"transcript": "ENST00000937803.1",
"protein_id": "ENSP00000607862.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 768,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937803.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Leu365Ser",
"transcript": "ENST00000356200.7",
"protein_id": "ENSP00000348529.2",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 746,
"cds_start": 1094,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356200.7"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Leu365Ser",
"transcript": "ENST00000378638.6",
"protein_id": "ENSP00000367905.1",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 746,
"cds_start": 1094,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378638.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "c.896T>C",
"hgvs_p": "p.Leu299Ser",
"transcript": "ENST00000893736.1",
"protein_id": "ENSP00000563795.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 680,
"cds_start": 896,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "n.104T>C",
"hgvs_p": null,
"transcript": "ENST00000468800.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468800.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "n.194T>C",
"hgvs_p": null,
"transcript": "ENST00000474916.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "n.209+67T>C",
"hgvs_p": null,
"transcript": "ENST00000492390.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK11A",
"gene_hgnc_id": 1730,
"hgvs_c": "n.1168+67T>C",
"hgvs_p": null,
"transcript": "ENST00000509982.5",
"protein_id": "ENSP00000422149.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
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{
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "CDK11A",
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"hom_count_reference_population": 2,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005014985799789429,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.406,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -8,
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"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001313896.2",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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{
"score": -8,
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"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000598846.1",
"gene_symbol": "ENSG00000268575",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3863+67T>C",
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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
}