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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: 12-106321645-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106321645&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106321645,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152772.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "NM_152772.3",
"protein_id": "NP_689985.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299045.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152772.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000299045.8",
"protein_id": "ENSP00000299045.3",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152772.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299045.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000546625.5",
"protein_id": "ENSP00000449123.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 272,
"cds_start": 574,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546625.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000718461.1",
"protein_id": "ENSP00000520839.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718461.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000910255.1",
"protein_id": "ENSP00000580314.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910255.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000910256.1",
"protein_id": "ENSP00000580315.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910256.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "NM_001286262.2",
"protein_id": "NP_001273191.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 266,
"cds_start": 574,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286262.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000547153.5",
"protein_id": "ENSP00000448952.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 266,
"cds_start": 574,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547153.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000553098.5",
"protein_id": "ENSP00000448629.1",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 233,
"cds_start": 574,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553098.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_005268767.6",
"protein_id": "XP_005268824.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268767.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_005268768.5",
"protein_id": "XP_005268825.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268768.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_011538129.4",
"protein_id": "XP_011536431.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538129.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_011538130.3",
"protein_id": "XP_011536432.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538130.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_017019127.3",
"protein_id": "XP_016874616.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019127.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_017019129.3",
"protein_id": "XP_016874618.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019129.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_017019130.3",
"protein_id": "XP_016874619.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019130.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_017019131.2",
"protein_id": "XP_016874620.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019131.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_047428666.1",
"protein_id": "XP_047284622.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428666.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_047428667.1",
"protein_id": "XP_047284623.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 519,
"cds_start": 574,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428667.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "XM_017019133.3",
"protein_id": "XP_016874622.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 454,
"cds_start": 379,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019133.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "XM_047428668.1",
"protein_id": "XP_047284624.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 454,
"cds_start": 379,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428668.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_011538132.4",
"protein_id": "XP_011536434.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 322,
"cds_start": 574,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Likely_pathogenic",
"transcript": "NM_152772.3",
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"effects": [
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"inheritance_mode": "Unknown",
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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
}