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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: 1-3815496-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3815496&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3815496,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014704.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Ala895Glu",
"transcript": "NM_014704.4",
"protein_id": "NP_055519.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 925,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": "ENST00000378230.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Ala895Glu",
"transcript": "ENST00000378230.8",
"protein_id": "ENSP00000367476.3",
"transcript_support_level": 5,
"aa_start": 895,
"aa_end": null,
"aa_length": 925,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": "NM_014704.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2702C>A",
"hgvs_p": "p.Ala901Glu",
"transcript": "ENST00000676052.1",
"protein_id": "ENSP00000502793.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 931,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Ala895Glu",
"transcript": "ENST00000674558.1",
"protein_id": "ENSP00000501829.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 925,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Ala895Glu",
"transcript": "ENST00000674623.1",
"protein_id": "ENSP00000501733.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 925,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2510C>A",
"hgvs_p": "p.Ala837Glu",
"transcript": "ENST00000674544.1",
"protein_id": "ENSP00000502641.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 867,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2510C>A",
"hgvs_p": "p.Ala837Glu",
"transcript": "ENST00000675375.1",
"protein_id": "ENSP00000502180.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 867,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2486C>A",
"hgvs_p": "p.Ala829Glu",
"transcript": "ENST00000675677.1",
"protein_id": "ENSP00000501944.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 859,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2810C>A",
"hgvs_p": "p.Ala937Glu",
"transcript": "XM_024451101.2",
"protein_id": "XP_024306869.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 967,
"cds_start": 2810,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 6577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2792C>A",
"hgvs_p": "p.Ala931Glu",
"transcript": "XM_005244815.5",
"protein_id": "XP_005244872.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 961,
"cds_start": 2792,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2636C>A",
"hgvs_p": "p.Ala879Glu",
"transcript": "XM_024451102.2",
"protein_id": "XP_024306870.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 909,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2618C>A",
"hgvs_p": "p.Ala873Glu",
"transcript": "XM_047435158.1",
"protein_id": "XP_047291114.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 903,
"cds_start": 2618,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2612C>A",
"hgvs_p": "p.Ala871Glu",
"transcript": "XM_024451104.2",
"protein_id": "XP_024306872.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 901,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2594C>A",
"hgvs_p": "p.Ala865Glu",
"transcript": "XM_047435161.1",
"protein_id": "XP_047291117.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 895,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2951,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2438C>A",
"hgvs_p": "p.Ala813Glu",
"transcript": "XM_024451106.2",
"protein_id": "XP_024306874.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 843,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2616C>A",
"hgvs_p": "p.Arg872Arg",
"transcript": "ENST00000675666.1",
"protein_id": "ENSP00000502548.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 964,
"cds_start": 2616,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.201C>A",
"hgvs_p": null,
"transcript": "ENST00000484420.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.3620C>A",
"hgvs_p": null,
"transcript": "ENST00000674879.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*1542C>A",
"hgvs_p": null,
"transcript": "ENST00000674985.1",
"protein_id": "ENSP00000502482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*2752C>A",
"hgvs_p": null,
"transcript": "ENST00000675108.1",
"protein_id": "ENSP00000502131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*563C>A",
"hgvs_p": null,
"transcript": "ENST00000675200.1",
"protein_id": "ENSP00000502512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.2488C>A",
"hgvs_p": null,
"transcript": "ENST00000675334.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*2013C>A",
"hgvs_p": null,
"transcript": "ENST00000675750.1",
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},
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}
],
"gene_symbol": "CEP104",
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"dbsnp": "rs754145994",
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"computational_score_selected": 0.03107503056526184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.1393,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.031,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014704.4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Joubert syndrome 25",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Joubert syndrome 25",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}