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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: 17-39766277-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39766277&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39766277,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012481.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "NM_012481.5",
"protein_id": "NP_036613.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 509,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346872.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012481.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "ENST00000346872.8",
"protein_id": "ENSP00000344544.3",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 509,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012481.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346872.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "ENST00000535189.5",
"protein_id": "ENSP00000438972.1",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 475,
"cds_start": 941,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535189.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "ENST00000439167.6",
"protein_id": "ENSP00000403776.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 436,
"cds_start": 824,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439167.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261Gln",
"transcript": "ENST00000377958.7",
"protein_id": "ENSP00000367194.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 422,
"cds_start": 782,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377958.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214Gln",
"transcript": "ENST00000377945.7",
"protein_id": "ENSP00000367180.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 375,
"cds_start": 641,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377945.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000377944.7",
"protein_id": "ENSP00000367179.3",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 366,
"cds_start": 614,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377944.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"transcript": "ENST00000394189.6",
"protein_id": "ENSP00000377741.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 327,
"cds_start": 497,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394189.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "ENST00000377952.6",
"protein_id": "ENSP00000367188.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 288,
"cds_start": 380,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377952.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101Gln",
"transcript": "ENST00000623724.3",
"protein_id": "ENSP00000485515.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 262,
"cds_start": 302,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623724.3"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "n.*377G>A",
"hgvs_p": null,
"transcript": "ENST00000293068.9",
"protein_id": "ENSP00000462791.1",
"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": "ENST00000293068.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "n.*377G>A",
"hgvs_p": null,
"transcript": "ENST00000348427.7",
"protein_id": "ENSP00000463505.1",
"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": "ENST00000348427.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "n.*377G>A",
"hgvs_p": null,
"transcript": "ENST00000293068.9",
"protein_id": "ENSP00000462791.1",
"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": "ENST00000293068.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "n.*377G>A",
"hgvs_p": null,
"transcript": "ENST00000348427.7",
"protein_id": "ENSP00000463505.1",
"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": "ENST00000348427.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "NM_001257408.2",
"protein_id": "NP_001244337.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 475,
"cds_start": 941,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257408.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309Gln",
"transcript": "NM_183229.3",
"protein_id": "NP_899052.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 470,
"cds_start": 926,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183229.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309Gln",
"transcript": "NM_183230.3",
"protein_id": "NP_899053.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 470,
"cds_start": 926,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183230.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309Gln",
"transcript": "ENST00000350532.7",
"protein_id": "ENSP00000344471.3",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 470,
"cds_start": 926,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350532.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309Gln",
"transcript": "ENST00000351680.7",
"protein_id": "ENSP00000345622.3",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 470,
"cds_start": 926,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351680.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292Gln",
"transcript": "NM_183228.3",
"protein_id": "NP_899051.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 453,
"cds_start": 875,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183228.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292Gln",
"transcript": "ENST00000467757.5",
"protein_id": "ENSP00000420463.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 453,
"cds_start": 875,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467757.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF3",
"gene_hgnc_id": 13178,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "NM_001257409.2",
"protein_id": "NP_001244338.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 436,
"cds_start": 824,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"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
}