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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: 22-17182671-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17182671&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17182671,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000399837.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "NM_001282225.2",
"protein_id": "NP_001269154.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": "ENST00000399837.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000399837.8",
"protein_id": "ENSP00000382731.2",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": "NM_001282225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000262607.3",
"protein_id": "ENSP00000262607.2",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "NM_001282226.2",
"protein_id": "NP_001269155.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000399839.5",
"protein_id": "ENSP00000382733.1",
"transcript_support_level": 5,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000543038.2",
"protein_id": "ENSP00000442482.2",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000649310.2",
"protein_id": "ENSP00000496839.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000649746.2",
"protein_id": "ENSP00000497913.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000696196.1",
"protein_id": "ENSP00000512479.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000696197.1",
"protein_id": "ENSP00000512480.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"transcript": "ENST00000696225.1",
"protein_id": "ENSP00000512491.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 511,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1874,
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"cdna_length": 4931,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.His349Arg",
"transcript": "NM_001282227.2",
"protein_id": "NP_001269156.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 469,
"cds_start": 1046,
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"cdna_start": 1215,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.His349Arg",
"transcript": "NM_001282228.2",
"protein_id": "NP_001269157.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
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"cds_start": 1046,
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"cdna_start": 1173,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.His349Arg",
"transcript": "ENST00000449907.8",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.His349Arg",
"transcript": "ENST00000649540.1",
"protein_id": "ENSP00000497469.1",
"transcript_support_level": null,
"aa_start": 349,
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"cds_start": 1046,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 9,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.His271Arg",
"transcript": "NM_001282229.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.His271Arg",
"transcript": "ENST00000610390.5",
"protein_id": "ENSP00000483418.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.His140Arg",
"transcript": "ENST00000696222.1",
"protein_id": "ENSP00000512488.1",
"transcript_support_level": null,
"aa_start": 140,
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"cds_start": 419,
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"cdna_start": 419,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ADA2",
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"hgvs_p": "p.His189Arg",
"transcript": "ENST00000696224.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "ADA2",
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"hgvs_c": "c.419A>G",
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"transcript": "ENST00000696223.1",
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},
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],
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"gene_symbol": "ADA2",
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"transcript": "NM_177405.3",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.His150Arg",
"transcript": "ENST00000330232.9",
"protein_id": "ENSP00000332871.4",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
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"cds_start": 449,
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"cdna_start": 654,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.His140Arg",
"transcript": "ENST00000696221.1",
"protein_id": "ENSP00000512487.1",
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.541,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Sneddon syndrome,Vasculitis due to ADA2 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Vasculitis due to ADA2 deficiency|Vasculitis due to ADA2 deficiency;Sneddon syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}