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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: 22-41714046-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41714046&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41714046,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152513.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "NM_152513.4",
"protein_id": "NP_689726.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1274,
"cds_start": 394,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401548.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152513.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "ENST00000401548.8",
"protein_id": "ENSP00000384115.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1274,
"cds_start": 394,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152513.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401548.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.-387C>T",
"hgvs_p": null,
"transcript": "ENST00000540833.1",
"protein_id": "ENSP00000444225.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.-71C>T",
"hgvs_p": null,
"transcript": "XM_011529949.3",
"protein_id": "XP_011528251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1031,
"cds_start": null,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529949.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "ENST00000890163.1",
"protein_id": "ENSP00000560222.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1235,
"cds_start": 394,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890163.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529945.4",
"protein_id": "XP_011528247.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1289,
"cds_start": 394,
"cds_end": null,
"cds_length": 3870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529945.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529935.3",
"protein_id": "XP_011528237.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1277,
"cds_start": 394,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529935.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529936.3",
"protein_id": "XP_011528238.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1269,
"cds_start": 394,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529936.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529937.3",
"protein_id": "XP_011528239.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1254,
"cds_start": 394,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529937.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_017028633.3",
"protein_id": "XP_016884122.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1254,
"cds_start": 394,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028633.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529938.3",
"protein_id": "XP_011528240.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1250,
"cds_start": 394,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529938.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529939.3",
"protein_id": "XP_011528241.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1245,
"cds_start": 394,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529939.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529940.3",
"protein_id": "XP_011528242.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1239,
"cds_start": 394,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529940.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529941.3",
"protein_id": "XP_011528243.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1230,
"cds_start": 394,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529941.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "XM_011529942.4",
"protein_id": "XP_011528244.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1225,
"cds_start": 202,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529942.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529943.3",
"protein_id": "XP_011528245.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1197,
"cds_start": 394,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529943.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529944.3",
"protein_id": "XP_011528246.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1188,
"cds_start": 394,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529944.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529946.3",
"protein_id": "XP_011528248.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1145,
"cds_start": 394,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529946.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529947.3",
"protein_id": "XP_011528249.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1115,
"cds_start": 394,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529947.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_047441160.1",
"protein_id": "XP_047297116.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1088,
"cds_start": 394,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441160.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "XM_047441161.1",
"protein_id": "XP_047297117.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1036,
"cds_start": 202,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441161.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEI1",
"gene_hgnc_id": 28613,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "XM_011529950.2",
"protein_id": "XP_011528252.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 959,
"cds_start": 394,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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],
"gene_symbol": "MEI1",
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"dbsnp": "rs535628064",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14600875973701477,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0785,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.34,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152513.4",
"gene_symbol": "MEI1",
"hgnc_id": 28613,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}