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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: 16-29968171-GCC-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29968171&ref=GCC&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM219",
"hgnc_id": 25201,
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_194280.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 593,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001083613.2",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000279396.11",
"protein_coding": true,
"protein_id": "NP_001077082.1",
"strand": true,
"transcript": "NM_001083613.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 593,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000279396.11",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001083613.2",
"protein_coding": true,
"protein_id": "ENSP00000279396.6",
"strand": true,
"transcript": "ENST00000279396.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1024,
"cdna_start": 669,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414689.6",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388485.2",
"strand": true,
"transcript": "ENST00000414689.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 969,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566848.5",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457492.1",
"strand": true,
"transcript": "ENST00000566848.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369688.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356617.1",
"strand": true,
"transcript": "NM_001369688.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 590,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_194280.4",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_919256.1",
"strand": true,
"transcript": "NM_194280.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1249,
"cdna_start": 568,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561899.6",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456960.1",
"strand": true,
"transcript": "ENST00000561899.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 596,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892936.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562995.1",
"strand": true,
"transcript": "ENST00000892936.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1103,
"cdna_start": 746,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892937.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562996.1",
"strand": true,
"transcript": "ENST00000892937.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 656,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892938.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562997.1",
"strand": true,
"transcript": "ENST00000892938.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892939.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562998.1",
"strand": true,
"transcript": "ENST00000892939.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892941.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563000.1",
"strand": true,
"transcript": "ENST00000892941.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 875,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892942.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563001.1",
"strand": true,
"transcript": "ENST00000892942.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 647,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892943.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563002.1",
"strand": true,
"transcript": "ENST00000892943.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 647,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892944.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563003.1",
"strand": true,
"transcript": "ENST00000892944.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892945.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563004.1",
"strand": true,
"transcript": "ENST00000892945.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": 576,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892946.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563005.1",
"strand": true,
"transcript": "ENST00000892946.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": 593,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892947.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563006.1",
"strand": true,
"transcript": "ENST00000892947.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": 571,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933382.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603441.1",
"strand": true,
"transcript": "ENST00000933382.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933383.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603442.1",
"strand": true,
"transcript": "ENST00000933383.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 895,
"cds_end": null,
"cds_length": 723,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958118.1",
"gene_hgnc_id": 25201,
"gene_symbol": "TMEM219",
"hgvs_c": "c.502_504delGCCinsACT",
"hgvs_p": "p.Ala168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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