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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: 3-48982973-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48982973&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARIH2",
"hgnc_id": 690,
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001349213.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000235236",
"hgnc_id": null,
"hgvs_c": "n.312+922G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000415982.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2612,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15663951635360718,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_006321.4",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Asp468Glu",
"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": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000356401.9",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Asp468Glu",
"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": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000449376.5",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Asp468Glu",
"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": "E",
"aa_end": null,
"aa_length": 523,
"aa_ref": "D",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1494,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000972221.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1494C>G",
"hgvs_p": "p.Asp498Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001349213.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001349214.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000907509.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000907514.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000907520.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907521.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000913588.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000972216.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000972220.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000972226.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000972227.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 516,
"aa_ref": "D",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1473,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000972233.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1473C>G",
"hgvs_p": "p.Asp491Glu",
"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": "E",
"aa_end": null,
"aa_length": 499,
"aa_ref": "D",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1422,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000972218.1",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Asp474Glu",
"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": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5034,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001317333.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Asp468Glu",
"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": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001349209.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Asp468Glu",
"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": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001349210.2",
"gene_hgnc_id": 690,
"gene_symbol": "ARIH2",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Asp468Glu",
"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": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 1658,
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