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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: 22-20061538-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20061538&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20061538,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000327374.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_152906.7",
"protein_id": "NP_690870.3",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 276,
"cds_start": 460,
"cds_end": null,
"cds_length": 831,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": "ENST00000327374.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "ENST00000327374.9",
"protein_id": "ENSP00000332721.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 276,
"cds_start": 460,
"cds_end": null,
"cds_length": 831,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": "NM_152906.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Gly195Arg",
"transcript": "NM_001322141.2",
"protein_id": "NP_001309070.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 369,
"cds_start": 583,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_001322142.2",
"protein_id": "NP_001309071.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 328,
"cds_start": 460,
"cds_end": null,
"cds_length": 987,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Gly195Arg",
"transcript": "NM_001283129.3",
"protein_id": "NP_001270058.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 317,
"cds_start": 583,
"cds_end": null,
"cds_length": 954,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Gly195Arg",
"transcript": "NM_001322143.2",
"protein_id": "NP_001309072.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 317,
"cds_start": 583,
"cds_end": null,
"cds_length": 954,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Gly195Arg",
"transcript": "ENST00000401833.5",
"protein_id": "ENSP00000384827.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 317,
"cds_start": 583,
"cds_end": null,
"cds_length": 954,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Gly195Arg",
"transcript": "ENST00000456048.5",
"protein_id": "ENSP00000403645.2",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 317,
"cds_start": 583,
"cds_end": null,
"cds_length": 954,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Arg",
"transcript": "NM_001322146.2",
"protein_id": "NP_001309075.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 294,
"cds_start": 358,
"cds_end": null,
"cds_length": 885,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Gly195Arg",
"transcript": "NM_001322144.2",
"protein_id": "NP_001309073.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 293,
"cds_start": 583,
"cds_end": null,
"cds_length": 882,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_001283106.3",
"protein_id": "NP_001270035.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 276,
"cds_start": 460,
"cds_end": null,
"cds_length": 831,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_001283116.3",
"protein_id": "NP_001270045.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 276,
"cds_start": 460,
"cds_end": null,
"cds_length": 831,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "NM_001322145.2",
"protein_id": "NP_001309074.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 255,
"cds_start": 397,
"cds_end": null,
"cds_length": 768,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "NM_001322147.2",
"protein_id": "NP_001309076.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 255,
"cds_start": 397,
"cds_end": null,
"cds_length": 768,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_001283148.3",
"protein_id": "NP_001270077.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 252,
"cds_start": 460,
"cds_end": null,
"cds_length": 759,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_001283154.3",
"protein_id": "NP_001270083.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 252,
"cds_start": 460,
"cds_end": null,
"cds_length": 759,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Arg",
"transcript": "NM_001322148.2",
"protein_id": "NP_001309077.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 242,
"cds_start": 358,
"cds_end": null,
"cds_length": 729,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Gly56Arg",
"transcript": "NM_001322150.2",
"protein_id": "NP_001309079.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 230,
"cds_start": 166,
"cds_end": null,
"cds_length": 693,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Gly56Arg",
"transcript": "NM_001322153.2",
"protein_id": "NP_001309082.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 230,
"cds_start": 166,
"cds_end": null,
"cds_length": 693,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Gly56Arg",
"transcript": "NM_001322155.2",
"protein_id": "NP_001309084.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 230,
"cds_start": 166,
"cds_end": null,
"cds_length": 693,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "ENST00000434168.5",
"protein_id": "ENSP00000411602.1",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 225,
"cds_start": 460,
"cds_end": null,
"cds_length": 679,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Arg",
"transcript": "NM_001322160.2",
"protein_id": "NP_001309089.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 218,
"cds_start": 358,
"cds_end": null,
"cds_length": 657,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TANGO2",
"gene_hgnc_id": 25439,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Gly92Arg",
"transcript": "NM_001283179.3",
"protein_id": "NP_001270108.1",
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{
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:2 O:1",
"phenotype_combined": "Acute rhabdomyolysis;Seizure;Episodic flaccid weakness;Intellectual disability;Cardiac arrhythmia|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}