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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: 12-56034603-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56034603&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56034603,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022465.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "NM_022465.4",
"protein_id": "NP_071910.3",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000547167.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022465.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "ENST00000547167.6",
"protein_id": "ENSP00000448419.1",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022465.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547167.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "ENST00000431367.6",
"protein_id": "ENSP00000412101.3",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431367.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Leu299Val",
"transcript": "ENST00000547791.2",
"protein_id": "ENSP00000450020.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 540,
"cds_start": 895,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547791.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "n.1163C>G",
"hgvs_p": null,
"transcript": "ENST00000551124.5",
"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": "ENST00000551124.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "NM_001351089.2",
"protein_id": "NP_001338018.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351089.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "ENST00000262032.9",
"protein_id": "ENSP00000262032.5",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262032.9"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "ENST00000936077.1",
"protein_id": "ENSP00000606136.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936077.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Leu299Val",
"transcript": "NM_001351090.1",
"protein_id": "NP_001338019.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 540,
"cds_start": 895,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351090.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.889C>G",
"hgvs_p": "p.Leu297Val",
"transcript": "NM_001351091.2",
"protein_id": "NP_001338020.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 538,
"cds_start": 889,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351091.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Leu242Val",
"transcript": "NM_001351092.2",
"protein_id": "NP_001338021.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 483,
"cds_start": 724,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351092.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "XM_017019806.2",
"protein_id": "XP_016875295.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019806.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "XM_017019810.2",
"protein_id": "XP_016875299.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019810.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Leu344Val",
"transcript": "XM_047429341.1",
"protein_id": "XP_047285297.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 585,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429341.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "XM_011538664.2",
"protein_id": "XP_011536966.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 563,
"cds_start": 964,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538664.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "XM_017019812.2",
"protein_id": "XP_016875301.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 563,
"cds_start": 964,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019812.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "XM_047429342.1",
"protein_id": "XP_047285298.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 563,
"cds_start": 964,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429342.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "XM_047429344.1",
"protein_id": "XP_047285300.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 563,
"cds_start": 964,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429344.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "XM_047429345.1",
"protein_id": "XP_047285301.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 563,
"cds_start": 964,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429345.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.907C>G",
"hgvs_p": "p.Leu303Val",
"transcript": "XM_047429346.1",
"protein_id": "XP_047285302.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 544,
"cds_start": 907,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429346.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.889C>G",
"hgvs_p": "p.Leu297Val",
"transcript": "XM_005269089.3",
"protein_id": "XP_005269146.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 538,
"cds_start": 889,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269089.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.889C>G",
"hgvs_p": "p.Leu297Val",
"transcript": "XM_011538669.3",
"protein_id": "XP_011536971.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 538,
"cds_start": 889,
"cds_end": null,
"cds_length": 1617,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -8,
"acmg_classification": "Benign",
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{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
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"BS2"
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"verdict": "Benign",
"transcript": "NM_022465.4",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -4,
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],
"verdict": "Likely_benign",
"transcript": "ENST00000551846.1",
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"effects": [
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],
"inheritance_mode": "",
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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
}