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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: 3-48967254-GTC-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48967254&ref=GTC&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARIH2",
"hgnc_id": 690,
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001349213.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006321.4",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356401.9",
"protein_coding": true,
"protein_id": "NP_006312.1",
"strand": true,
"transcript": "NM_006321.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356401.9",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006321.4",
"protein_coding": true,
"protein_id": "ENSP00000348769.4",
"strand": true,
"transcript": "ENST00000356401.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449376.5",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403222.1",
"strand": true,
"transcript": "ENST00000449376.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 523,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1572,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972221.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642280.1",
"strand": true,
"transcript": "ENST00000972221.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349213.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336142.1",
"strand": true,
"transcript": "NM_001349213.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349214.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336143.1",
"strand": true,
"transcript": "NM_001349214.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907509.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577568.1",
"strand": true,
"transcript": "ENST00000907509.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907514.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577573.1",
"strand": true,
"transcript": "ENST00000907514.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907520.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577579.1",
"strand": true,
"transcript": "ENST00000907520.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907521.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577580.1",
"strand": true,
"transcript": "ENST00000907521.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913588.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583647.1",
"strand": true,
"transcript": "ENST00000913588.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972216.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642275.1",
"strand": true,
"transcript": "ENST00000972216.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972220.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642279.1",
"strand": true,
"transcript": "ENST00000972220.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972226.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642285.1",
"strand": true,
"transcript": "ENST00000972226.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1551,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972227.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.586_588delGTCinsATT",
"hgvs_p": "p.Val196Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642286.1",
"strand": true,
"transcript": "ENST00000972227.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1551,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972233.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642292.1",
"strand": true,
"transcript": "ENST00000972233.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1500,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972218.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642277.1",
"strand": true,
"transcript": "ENST00000972218.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5034,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001317333.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304262.1",
"strand": true,
"transcript": "NM_001317333.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349209.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336138.1",
"strand": true,
"transcript": "NM_001349209.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349210.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336139.1",
"strand": true,
"transcript": "NM_001349210.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1482,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349211.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.517_519delGTCinsATT",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
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